Name: rs2710102
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2710102

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:147877298 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.482080 (142286/295150, ALFA)
A=0.414628 (109748/264690, TOPMED)
A=0.35227 (27713/78670, PAGE_STUDY) (+ 20 more)
A=0.30360 (8579/28258, 14KJPN)
A=0.30517 (5114/16758, 8.3KJPN)
A=0.4083 (2615/6404, 1000G_30x)
A=0.4113 (2060/5008, 1000G)
G=0.4906 (2198/4480, Estonian)
A=0.4881 (1881/3854, ALSPAC)
A=0.4876 (1808/3708, TWINSUK)
A=0.3785 (1109/2930, KOREAN)
A=0.4183 (870/2080, HGDP_Stanford)
A=0.3676 (694/1888, HapMap)
A=0.3859 (707/1832, Korea1K)
G=0.497 (496/998, GoNL)
A=0.467 (367/786, PRJEB37584)
A=0.475 (285/600, NorthernSweden)
A=0.293 (134/458, SGDP_PRJ)
A=0.333 (72/216, Qatari)
A=0.379 (81/214, Vietnamese)
A=0.35 (18/52, Ancient Sardinia)
A=0.36 (15/42, Siberian)
G=0.45 (18/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CNTNAP2 : Intron Variant
Publications: 28 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	300184	A=0.481258	G=0.518742, T=0.000000
European	Sub	265006	A=0.491159	G=0.508841, T=0.000000
African	Sub	9164	A=0.3175	G=0.6825, T=0.0000
African Others	Sub	364	A=0.261	G=0.739, T=0.000
African American	Sub	8800	A=0.3199	G=0.6801, T=0.0000
Asian	Sub	3836	A=0.3754	G=0.6246, T=0.0000
East Asian	Sub	3112	A=0.3840	G=0.6160, T=0.0000
Other Asian	Sub	724	A=0.338	G=0.662, T=0.000
Latin American 1	Sub	1014	A=0.4517	G=0.5483, T=0.0000
Latin American 2	Sub	6726	A=0.4028	G=0.5972, T=0.0000
South Asian	Sub	5160	A=0.5306	G=0.4694, T=0.0000
Other	Sub	9278	A=0.4366	G=0.5634, T=0.0000

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	295150	A=0.482080	G=0.517920, T=0.000000
Allele Frequency Aggregator	European	Sub	261914	A=0.491222	G=0.508778, T=0.000000
Allele Frequency Aggregator	Other	Sub	8478	A=0.4368	G=0.5632, T=0.0000
Allele Frequency Aggregator	African	Sub	8022	A=0.3216	G=0.6784, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	6726	A=0.4028	G=0.5972, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5160	A=0.5306	G=0.4694, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3836	A=0.3754	G=0.6246, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1014	A=0.4517	G=0.5483, T=0.0000
TopMed	Global	Study-wide	264690	A=0.414628	G=0.585372
The PAGE Study	Global	Study-wide	78670	A=0.35227	G=0.64773
The PAGE Study	AfricanAmerican	Sub	32504	A=0.31316	G=0.68684
The PAGE Study	Mexican	Sub	10806	A=0.39487	G=0.60513
The PAGE Study	Asian	Sub	8314	A=0.3203	G=0.6797
The PAGE Study	PuertoRican	Sub	7912	A=0.4044	G=0.5956
The PAGE Study	NativeHawaiian	Sub	4534	A=0.3209	G=0.6791
The PAGE Study	Cuban	Sub	4228	A=0.4212	G=0.5788
The PAGE Study	Dominican	Sub	3826	A=0.3719	G=0.6281
The PAGE Study	CentralAmerican	Sub	2450	A=0.3763	G=0.6237
The PAGE Study	SouthAmerican	Sub	1982	A=0.4178	G=0.5822
The PAGE Study	NativeAmerican	Sub	1260	A=0.4421	G=0.5579
The PAGE Study	SouthAsian	Sub	854	A=0.513	G=0.487
14KJPN	JAPANESE	Study-wide	28258	A=0.30360	G=0.69640
8.3KJPN	JAPANESE	Study-wide	16758	A=0.30517	G=0.69483
1000Genomes_30x	Global	Study-wide	6404	A=0.4083	G=0.5917
1000Genomes_30x	African	Sub	1786	A=0.2996	G=0.7004
1000Genomes_30x	Europe	Sub	1266	A=0.4810	G=0.5190
1000Genomes_30x	South Asian	Sub	1202	A=0.5483	G=0.4517
1000Genomes_30x	East Asian	Sub	1170	A=0.3684	G=0.6316
1000Genomes_30x	American	Sub	980	A=0.389	G=0.611
1000Genomes	Global	Study-wide	5008	A=0.4113	G=0.5887
1000Genomes	African	Sub	1322	A=0.2958	G=0.7042
1000Genomes	East Asian	Sub	1008	A=0.3671	G=0.6329
1000Genomes	Europe	Sub	1006	A=0.4881	G=0.5119
1000Genomes	South Asian	Sub	978	A=0.545	G=0.455
1000Genomes	American	Sub	694	A=0.396	G=0.604
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5094	G=0.4906
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4881	G=0.5119
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4876	G=0.5124
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3785	G=0.6215, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2080	A=0.4183	G=0.5817
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	A=0.410	G=0.590
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	412	A=0.519	G=0.481
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.429	G=0.571
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.466	G=0.534
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.198	G=0.802
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.472	G=0.528
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.21	G=0.79
HapMap	Global	Study-wide	1888	A=0.3676	G=0.6324
HapMap	American	Sub	770	A=0.461	G=0.539
HapMap	African	Sub	690	A=0.258	G=0.742
HapMap	Asian	Sub	252	A=0.310	G=0.690
HapMap	Europe	Sub	176	A=0.472	G=0.528
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3859	G=0.6141
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.503	G=0.497
CNV burdens in cranial meningiomas	Global	Study-wide	786	A=0.467	G=0.533
CNV burdens in cranial meningiomas	CRM	Sub	786	A=0.467	G=0.533
Northern Sweden	ACPOP	Study-wide	600	A=0.475	G=0.525
SGDP_PRJ	Global	Study-wide	458	A=0.293	G=0.707
Qatari	Global	Study-wide	216	A=0.333	G=0.667
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.379	G=0.621
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	52	A=0.35	G=0.65
Siberian	Global	Study-wide	42	A=0.36	G=0.64
The Danish reference pan genome	Danish	Study-wide	40	A=0.55	G=0.45

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 7	NC_000007.14:g.147877298A>G
GRCh38.p14 chr 7	NC_000007.14:g.147877298A>T
GRCh37.p13 chr 7	NC_000007.13:g.147574390A>G
GRCh37.p13 chr 7	NC_000007.13:g.147574390A>T
CNTNAP2 RefSeqGene	NG_007092.3:g.1766298A>G
CNTNAP2 RefSeqGene	NG_007092.3:g.1766298A>T

Gene: CNTNAP2, contactin associated protein 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CNTNAP2 transcript	NM_014141.6:c.2099-26267A… NM_014141.6:c.2099-26267A>G	N/A	Intron Variant
CNTNAP2 transcript variant X1	XM_017011950.3:c.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 20530 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000005826.6	Autism, susceptibility to, 15	Risk-Factor

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A=	G	T
GRCh38.p14 chr 7	NC_000007.14:g.147877298=	NC_000007.14:g.147877298A>G	NC_000007.14:g.147877298A>T
GRCh37.p13 chr 7	NC_000007.13:g.147574390=	NC_000007.13:g.147574390A>G	NC_000007.13:g.147574390A>T
CNTNAP2 RefSeqGene	NG_007092.3:g.1766298=	NG_007092.3:g.1766298A>G	NG_007092.3:g.1766298A>T
CNTNAP2 transcript	NM_014141.5:c.2099-26267=	NM_014141.5:c.2099-26267A>G	NM_014141.5:c.2099-26267A>T
CNTNAP2 transcript	NM_014141.6:c.2099-26267=	NM_014141.6:c.2099-26267A>G	NM_014141.6:c.2099-26267A>T

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

138 SubSNP, 25 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3829658	Sep 28, 2001 (100)
2	WI_SSAHASNP	ss11865581	Jul 11, 2003 (116)
3	WUGSC_SSAHASNP	ss14553909	Dec 05, 2003 (120)
4	CSHL-HAPMAP	ss17163558	Feb 27, 2004 (120)
5	SSAHASNP	ss22597068	Apr 05, 2004 (121)
6	PERLEGEN	ss24414542	Sep 20, 2004 (123)
7	ABI	ss44794034	Mar 13, 2006 (126)
8	ILLUMINA	ss66646511	Dec 01, 2006 (127)
9	ILLUMINA	ss67268963	Dec 01, 2006 (127)
10	ILLUMINA	ss67669289	Dec 01, 2006 (127)
11	ILLUMINA	ss70747396	May 24, 2008 (130)
12	ILLUMINA	ss71319282	May 18, 2007 (127)
13	ILLUMINA	ss75522817	Dec 06, 2007 (129)
14	ILLUMINA	ss79144264	Dec 15, 2007 (130)
15	HGSV	ss81820910	Dec 15, 2007 (130)
16	KRIBB_YJKIM	ss84070960	Dec 15, 2007 (130)
17	HGSV	ss84271461	Dec 15, 2007 (130)
18	BCMHGSC_JDW	ss93786299	Mar 25, 2008 (129)
19	BGI	ss105580906	Feb 05, 2009 (130)
20	1000GENOMES	ss112623233	Jan 25, 2009 (130)
21	1000GENOMES	ss114616166	Jan 25, 2009 (130)
22	ILLUMINA-UK	ss116373440	Feb 14, 2009 (130)
23	ILLUMINA	ss122089567	Dec 01, 2009 (131)
24	ENSEMBL	ss143066837	Dec 01, 2009 (131)
25	ENSEMBL	ss144243879	Dec 01, 2009 (131)
26	ILLUMINA	ss154229417	Dec 01, 2009 (131)
27	GMI	ss155653708	Dec 01, 2009 (131)
28	ILLUMINA	ss159405954	Dec 01, 2009 (131)
29	ILLUMINA	ss160571936	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss162823221	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss165641048	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss167232373	Jul 04, 2010 (132)
33	ILLUMINA	ss171351023	Jul 04, 2010 (132)
34	ILLUMINA	ss173437634	Jul 04, 2010 (132)
35	BUSHMAN	ss198457888	Jul 04, 2010 (132)
36	BCM-HGSC-SUB	ss208019549	Jul 04, 2010 (132)
37	1000GENOMES	ss223400642	Jul 14, 2010 (132)
38	1000GENOMES	ss234216307	Jul 15, 2010 (132)
39	1000GENOMES	ss241117354	Jul 15, 2010 (132)
40	BL	ss254749311	May 09, 2011 (134)
41	GMI	ss279578659	May 04, 2012 (137)
42	PJP	ss293998065	May 09, 2011 (134)
43	ILLUMINA	ss480642001	May 04, 2012 (137)
44	ILLUMINA	ss480657305	May 04, 2012 (137)
45	ILLUMINA	ss481501927	Sep 08, 2015 (146)
46	ILLUMINA	ss485116019	May 04, 2012 (137)
47	ILLUMINA	ss537118638	Sep 08, 2015 (146)
48	TISHKOFF	ss560383892	Apr 25, 2013 (138)
49	SSMP	ss654796366	Apr 25, 2013 (138)
50	ILLUMINA	ss778504022	Sep 08, 2015 (146)
51	ILLUMINA	ss783004330	Sep 08, 2015 (146)
52	ILLUMINA	ss783964736	Sep 08, 2015 (146)
53	ILLUMINA	ss825474782	Apr 01, 2015 (144)
54	ILLUMINA	ss832261542	Sep 08, 2015 (146)
55	ILLUMINA	ss832917653	Jul 13, 2019 (153)
56	ILLUMINA	ss833960187	Sep 08, 2015 (146)
57	EVA-GONL	ss984932992	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1075082648	Aug 21, 2014 (142)
59	1000GENOMES	ss1327648243	Aug 21, 2014 (142)
60	DDI	ss1431320348	Apr 01, 2015 (144)
61	EVA_GENOME_DK	ss1582453748	Apr 01, 2015 (144)
62	EVA_DECODE	ss1594524143	Apr 01, 2015 (144)
63	EVA_UK10K_ALSPAC	ss1619488252	Apr 01, 2015 (144)
64	EVA_UK10K_TWINSUK	ss1662482285	Apr 01, 2015 (144)
65	EVA_SVP	ss1712996707	Apr 01, 2015 (144)
66	ILLUMINA	ss1752670239	Sep 08, 2015 (146)
67	HAMMER_LAB	ss1805281112	Sep 08, 2015 (146)
68	WEILL_CORNELL_DGM	ss1928192988	Feb 12, 2016 (147)
69	ILLUMINA	ss1946223950	Feb 12, 2016 (147)
70	ILLUMINA	ss1959062456	Feb 12, 2016 (147)
71	GENOMED	ss1970846317	Jul 19, 2016 (147)
72	JJLAB	ss2024786211	Sep 14, 2016 (149)
73	USC_VALOUEV	ss2153009359	Dec 20, 2016 (150)
74	HUMAN_LONGEVITY	ss2298906408	Dec 20, 2016 (150)
75	SYSTEMSBIOZJU	ss2626877878	Nov 08, 2017 (151)
76	ILLUMINA	ss2634675608	Nov 08, 2017 (151)
77	GRF	ss2708734436	Nov 08, 2017 (151)
78	ILLUMINA	ss2711124147	Nov 08, 2017 (151)
79	GNOMAD	ss2860587616	Nov 08, 2017 (151)
80	SWEGEN	ss3002255290	Nov 08, 2017 (151)
81	ILLUMINA	ss3022791636	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3026182337	Nov 08, 2017 (151)
83	CSHL	ss3347904845	Nov 08, 2017 (151)
84	ILLUMINA	ss3625940851	Oct 12, 2018 (152)
85	ILLUMINA	ss3629941882	Oct 12, 2018 (152)
86	ILLUMINA	ss3632579125	Oct 12, 2018 (152)
87	ILLUMINA	ss3633482065	Oct 12, 2018 (152)
88	ILLUMINA	ss3634207875	Oct 12, 2018 (152)
89	ILLUMINA	ss3635147278	Oct 12, 2018 (152)
90	ILLUMINA	ss3635887183	Oct 12, 2018 (152)
91	ILLUMINA	ss3636882398	Oct 12, 2018 (152)
92	ILLUMINA	ss3637640246	Oct 12, 2018 (152)
93	ILLUMINA	ss3638730958	Oct 12, 2018 (152)
94	ILLUMINA	ss3639366486	Oct 12, 2018 (152)
95	ILLUMINA	ss3639712325	Oct 12, 2018 (152)
96	ILLUMINA	ss3640854569	Oct 12, 2018 (152)
97	ILLUMINA	ss3643664175	Oct 12, 2018 (152)
98	ILLUMINA	ss3644957111	Oct 12, 2018 (152)
99	URBANLAB	ss3648783515	Oct 12, 2018 (152)
100	ILLUMINA	ss3653327694	Oct 12, 2018 (152)
101	EGCUT_WGS	ss3670000923	Jul 13, 2019 (153)
102	EVA_DECODE	ss3720946133	Jul 13, 2019 (153)
103	ILLUMINA	ss3726492445	Jul 13, 2019 (153)
104	ACPOP	ss3735182085	Jul 13, 2019 (153)
105	ILLUMINA	ss3744298136	Jul 13, 2019 (153)
106	ILLUMINA	ss3745447225	Jul 13, 2019 (153)
107	EVA	ss3767315933	Jul 13, 2019 (153)
108	PAGE_CC	ss3771406730	Jul 13, 2019 (153)
109	ILLUMINA	ss3772939924	Jul 13, 2019 (153)
110	PACBIO	ss3785994631	Jul 13, 2019 (153)
111	PACBIO	ss3791267484	Jul 13, 2019 (153)
112	PACBIO	ss3796147771	Jul 13, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3810482061	Jul 13, 2019 (153)
114	EVA	ss3830885244	Apr 26, 2020 (154)
115	EVA	ss3838942035	Apr 26, 2020 (154)
116	EVA	ss3844399401	Apr 26, 2020 (154)
117	HGDP	ss3847895003	Apr 26, 2020 (154)
118	SGDP_PRJ	ss3868670799	Apr 26, 2020 (154)
119	KRGDB	ss3916059631	Apr 26, 2020 (154)
120	KOGIC	ss3962826865	Apr 26, 2020 (154)
121	EVA	ss3984597012	Apr 26, 2021 (155)
122	EVA	ss3985329102	Apr 26, 2021 (155)
123	TOPMED	ss4768221546	Apr 26, 2021 (155)
124	TOMMO_GENOMICS	ss5186173809	Apr 26, 2021 (155)
125	1000G_HIGH_COVERAGE	ss5275201910	Oct 13, 2022 (156)
126	EVA	ss5315287807	Oct 13, 2022 (156)
127	EVA	ss5377616489	Oct 13, 2022 (156)
128	HUGCELL_USP	ss5472030771	Oct 13, 2022 (156)
129	EVA	ss5509177139	Oct 13, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5564594322	Oct 13, 2022 (156)
131	SANFORD_IMAGENETICS	ss5644248597	Oct 13, 2022 (156)
132	TOMMO_GENOMICS	ss5727357967	Oct 13, 2022 (156)
133	EVA	ss5799740338	Oct 13, 2022 (156)
134	YY_MCH	ss5809209523	Oct 13, 2022 (156)
135	EVA	ss5823700438	Oct 13, 2022 (156)
136	EVA	ss5856147924	Oct 13, 2022 (156)
137	EVA	ss5861402200	Oct 13, 2022 (156)
138	EVA	ss5973452404	Oct 13, 2022 (156)
139	1000Genomes	NC_000007.13 - 147574390	Oct 12, 2018 (152)
140	1000Genomes_30x	NC_000007.14 - 147877298	Oct 13, 2022 (156)
141	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 147574390	Oct 12, 2018 (152)
142	Genetic variation in the Estonian population	NC_000007.13 - 147574390	Oct 12, 2018 (152)
143	The Danish reference pan genome	NC_000007.13 - 147574390	Apr 26, 2020 (154)
144	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280431679 (NC_000007.14:147877297:A:G 80263/139914) Row 280431680 (NC_000007.14:147877297:A:T 1/139964)	-	Apr 26, 2021 (155)
145	gnomAD - Genomes Submission ignored due to conflicting rows: Row 280431679 (NC_000007.14:147877297:A:G 80263/139914) Row 280431680 (NC_000007.14:147877297:A:T 1/139964)	-	Apr 26, 2021 (155)
146	Genome of the Netherlands Release 5	NC_000007.13 - 147574390	Apr 26, 2020 (154)
147	HGDP-CEPH-db Supplement 1	NC_000007.12 - 147205323	Apr 26, 2020 (154)
148	HapMap	NC_000007.14 - 147877298	Apr 26, 2020 (154)
149	KOREAN population from KRGDB	NC_000007.13 - 147574390	Apr 26, 2020 (154)
150	Korean Genome Project	NC_000007.14 - 147877298	Apr 26, 2020 (154)
151	Northern Sweden	NC_000007.13 - 147574390	Jul 13, 2019 (153)
152	The PAGE Study	NC_000007.14 - 147877298	Jul 13, 2019 (153)
153	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 147574390	Apr 26, 2021 (155)
154	CNV burdens in cranial meningiomas	NC_000007.13 - 147574390	Apr 26, 2021 (155)
155	Qatari	NC_000007.13 - 147574390	Apr 26, 2020 (154)
156	SGDP_PRJ	NC_000007.13 - 147574390	Apr 26, 2020 (154)
157	Siberian	NC_000007.13 - 147574390	Apr 26, 2020 (154)
158	8.3KJPN	NC_000007.13 - 147574390	Apr 26, 2021 (155)
159	14KJPN	NC_000007.14 - 147877298	Oct 13, 2022 (156)
160	TopMed	NC_000007.14 - 147877298	Apr 26, 2021 (155)
161	UK 10K study - Twins	NC_000007.13 - 147574390	Oct 12, 2018 (152)
162	A Vietnamese Genetic Variation Database	NC_000007.13 - 147574390	Jul 13, 2019 (153)
163	ALFA	NC_000007.14 - 147877298	Apr 26, 2021 (155)
164	ClinVar	RCV000005826.6	Apr 26, 2020 (154)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs10348618	Feb 27, 2004 (120)
rs17826777	Oct 08, 2004 (123)
rs58778612	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81820910, ss84271461, ss3639366486, ss3639712325	NC_000007.11:147012037:A:G	NC_000007.14:147877297:A:G	(self)
572895, ss93786299, ss112623233, ss114616166, ss116373440, ss162823221, ss165641048, ss167232373, ss198457888, ss208019549, ss254749311, ss279578659, ss293998065, ss480642001, ss825474782, ss1594524143, ss1712996707, ss3643664175, ss3847895003	NC_000007.12:147205322:A:G	NC_000007.14:147877297:A:G	(self)
39710979, 22100891, 15739171, 8618686, 9859813, 23237025, 8466950, 555029, 146444, 10234918, 20687779, 5525713, 44143116, 22100891, 4919715, ss223400642, ss234216307, ss241117354, ss480657305, ss481501927, ss485116019, ss537118638, ss560383892, ss654796366, ss778504022, ss783004330, ss783964736, ss832261542, ss832917653, ss833960187, ss984932992, ss1075082648, ss1327648243, ss1431320348, ss1582453748, ss1619488252, ss1662482285, ss1752670239, ss1805281112, ss1928192988, ss1946223950, ss1959062456, ss1970846317, ss2024786211, ss2153009359, ss2626877878, ss2634675608, ss2708734436, ss2711124147, ss2860587616, ss3002255290, ss3022791636, ss3347904845, ss3625940851, ss3629941882, ss3632579125, ss3633482065, ss3634207875, ss3635147278, ss3635887183, ss3636882398, ss3637640246, ss3638730958, ss3640854569, ss3644957111, ss3653327694, ss3670000923, ss3735182085, ss3744298136, ss3745447225, ss3767315933, ss3772939924, ss3785994631, ss3791267484, ss3796147771, ss3830885244, ss3838942035, ss3868670799, ss3916059631, ss3984597012, ss3985329102, ss5186173809, ss5315287807, ss5377616489, ss5509177139, ss5644248597, ss5799740338, ss5823700438, ss5973452404	NC_000007.13:147574389:A:G	NC_000007.14:147877297:A:G	(self)
RCV000005826.6, 52120257, 3519334, 19204866, 628199, 61195071, 605599105, 7215931150, ss2298906408, ss3026182337, ss3648783515, ss3720946133, ss3726492445, ss3771406730, ss3810482061, ss3844399401, ss3962826865, ss4768221546, ss5275201910, ss5472030771, ss5564594322, ss5727357967, ss5809209523, ss5856147924, ss5861402200	NC_000007.14:147877297:A:G	NC_000007.14:147877297:A:G	(self)
ss11865581	NT_007914.12:8117160:A:G	NC_000007.14:147877297:A:G	(self)
ss14553909, ss17163558, ss22597068	NT_007914.13:8150405:A:G	NC_000007.14:147877297:A:G	(self)
ss3829658, ss24414542, ss44794034, ss66646511, ss67268963, ss67669289, ss70747396, ss71319282, ss75522817, ss79144264, ss84070960, ss105580906, ss122089567, ss143066837, ss144243879, ss154229417, ss155653708, ss159405954, ss160571936, ss171351023, ss173437634	NT_007914.15:8170012:A:G	NC_000007.14:147877297:A:G	(self)
23237025, ss3916059631	NC_000007.13:147574389:A:T	NC_000007.14:147877297:A:T	(self)
7215931150	NC_000007.14:147877297:A:T	NC_000007.14:147877297:A:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

28 citations for rs2710102

PMID	Title	Author	Year	Journal
18179893	Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.	Alarcón M et al.	2008	American journal of human genetics
18987363	A functional genetic link between distinct developmental language disorders.	Vernes SC et al.	2008	The New England journal of medicine
19456320	A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.	Ma D et al.	2009	Annals of human genetics
20838614	Traits contributing to the autistic spectrum.	Steer CD et al.	2010	PloS one
21165691	Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.	Newbury DF et al.	2011	Behavior genetics
21193173	A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits.	Stein MB et al.	2011	Biological psychiatry
21310003	CNTNAP2 variants affect early language development in the general population.	Whitehouse AJ et al.	2011	Genes, brain, and behavior
21484596	Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample.	Peter B et al.	2011	Journal of neurodevelopmental disorders
21987501	Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.	Whalley HC et al.	2011	American journal of medical genetics. Part B, Neuropsychiatric genetics
22365836	What does CNTNAP2 reveal about autism spectrum disorder?	Peñagarikano O et al.	2012	Trends in molecular medicine
22615702	Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions.	Ameis SH et al.	2012	Frontiers in psychiatry
22843504	Individual common variants exert weak effects on the risk for autism spectrum disorders.	Anney R et al.	2012	Human molecular genetics
23123147	CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population.	Ji W et al.	2013	Psychiatry research
23277129	Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.	Toma C et al.	2013	Psychiatric genetics
23715297	Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.	Vardarajan BN et al.	2013	Translational psychiatry
23871450	CNTNAP2 polymorphisms and structural brain connectivity: a diffusion-tensor imaging study.	Clemm von Hohenberg C et al.	2013	Journal of psychiatric research
24147096	Defining the contribution of CNTNAP2 to autism susceptibility.	Sampath S et al.	2013	PloS one
25895914	CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.	Zhao YJ et al.	2015	Journal of child neurology
26322220	A comprehensive meta-analysis of common genetic variants in autism spectrum conditions.	Warrier V et al.	2015	Molecular autism
26559825	CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches.	Werling AM et al.	2016	Journal of neural transmission (Vienna, Austria
28498932	From CNTNAP2 to Early Expressive Language in Infancy: The Mediation Role of Rapid Auditory Processing.	Riva V et al.	2018	Cerebral cortex (New York, N.Y.
30586385	Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.	Toma C et al.	2018	PLoS genetics
30681286	Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium.	Zhang T et al.	2019	Autism research
31993662	Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction.	Bai T et al.	2019	Social cognitive and affective neuroscience
33901431	Common variants of the autism-associated CNTNAP2 gene contribute to the modulatory effect of social function mediated by temporal cortex.	Li D et al.	2021	Behavioural brain research
33950402	CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case-control study combined with a meta-analysis.	Uddin MS et al.	2021	Human cell
34271514	Altered cingulate structures and the associations with social awareness deficits and CNTNAP2 gene in autism spectrum disorder.	Chien YL et al.	2021	NeuroImage. Clinical
34898614	A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability.	Shiota Y et al.	2021	PloS one

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2710102