Name: rs2298444
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.

rs2298444

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:72221370 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.272889 (72231/264690, TOPMED)
C=0.197137 (40428/205076, GENOGRAPHIC)
C=0.202639 (31172/153830, ALFA) (+ 20 more)
C=0.265560 (37162/139938, GnomAD)
C=0.29705 (8394/28258, 14KJPN)
C=0.30111 (5046/16758, 8.3KJPN)
C=0.3495 (2238/6404, 1000G_30x)
C=0.3516 (1761/5008, 1000G)
C=0.1737 (778/4480, Estonian)
C=0.1777 (685/3854, ALSPAC)
C=0.1815 (673/3708, TWINSUK)
C=0.3082 (903/2930, KOREAN)
C=0.3603 (681/1890, HapMap)
C=0.3308 (606/1832, Korea1K)
C=0.200 (200/998, GoNL)
C=0.185 (111/600, NorthernSweden)
C=0.178 (95/534, MGP)
T=0.377 (107/284, SGDP_PRJ)
C=0.324 (70/216, Qatari)
C=0.453 (96/212, Vietnamese)
C=0.28 (16/58, Ancient Sardinia)
C=0.23 (9/40, GENOME_DK)
T=0.36 (8/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FOLR2 : Intron Variant
Publications: 8 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	153922	T=0.797397	C=0.202603
European	Sub	134320	T=0.816409	C=0.183591
African	Sub	9312	T=0.5614	C=0.4386
African Others	Sub	326	T=0.552	C=0.448
African American	Sub	8986	T=0.5618	C=0.4382
Asian	Sub	630	T=0.648	C=0.352
East Asian	Sub	498	T=0.659	C=0.341
Other Asian	Sub	132	T=0.606	C=0.394
Latin American 1	Sub	686	T=0.774	C=0.226
Latin American 2	Sub	2262	T=0.7812	C=0.2188
South Asian	Sub	184	T=0.560	C=0.440
Other	Sub	6528	T=0.7721	C=0.2279

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.727111	C=0.272889
Genographic Project	Global	Study-wide	205076	T=0.802863	C=0.197137
Allele Frequency Aggregator	Total	Global	153830	T=0.797361	C=0.202639
Allele Frequency Aggregator	European	Sub	134244	T=0.816349	C=0.183651
Allele Frequency Aggregator	African	Sub	9312	T=0.5614	C=0.4386
Allele Frequency Aggregator	Other	Sub	6512	T=0.7726	C=0.2274
Allele Frequency Aggregator	Latin American 2	Sub	2262	T=0.7812	C=0.2188
Allele Frequency Aggregator	Latin American 1	Sub	686	T=0.774	C=0.226
Allele Frequency Aggregator	Asian	Sub	630	T=0.648	C=0.352
Allele Frequency Aggregator	South Asian	Sub	184	T=0.560	C=0.440
gnomAD - Genomes	Global	Study-wide	139938	T=0.734440	C=0.265560
gnomAD - Genomes	European	Sub	75856	T=0.81810	C=0.18190
gnomAD - Genomes	African	Sub	41878	T=0.56832	C=0.43168
gnomAD - Genomes	American	Sub	13632	T=0.78030	C=0.21970
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.8227	C=0.1773
gnomAD - Genomes	East Asian	Sub	3104	T=0.6128	C=0.3872
gnomAD - Genomes	Other	Sub	2146	T=0.7670	C=0.2330
14KJPN	JAPANESE	Study-wide	28258	T=0.70295	C=0.29705
8.3KJPN	JAPANESE	Study-wide	16758	T=0.69889	C=0.30111
1000Genomes_30x	Global	Study-wide	6404	T=0.6505	C=0.3495
1000Genomes_30x	African	Sub	1786	T=0.5409	C=0.4591
1000Genomes_30x	Europe	Sub	1266	T=0.7923	C=0.2077
1000Genomes_30x	South Asian	Sub	1202	T=0.5940	C=0.4060
1000Genomes_30x	East Asian	Sub	1170	T=0.6248	C=0.3752
1000Genomes_30x	American	Sub	980	T=0.767	C=0.233
1000Genomes	Global	Study-wide	5008	T=0.6484	C=0.3516
1000Genomes	African	Sub	1322	T=0.5484	C=0.4516
1000Genomes	East Asian	Sub	1008	T=0.6250	C=0.3750
1000Genomes	Europe	Sub	1006	T=0.7883	C=0.2117
1000Genomes	South Asian	Sub	978	T=0.573	C=0.427
1000Genomes	American	Sub	694	T=0.777	C=0.223
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8263	C=0.1737
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.8223	C=0.1777
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8185	C=0.1815
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.6918	C=0.3082
HapMap	Global	Study-wide	1890	T=0.6397	C=0.3603
HapMap	American	Sub	768	T=0.682	C=0.318
HapMap	African	Sub	692	T=0.536	C=0.464
HapMap	Asian	Sub	254	T=0.705	C=0.295
HapMap	Europe	Sub	176	T=0.767	C=0.233
Korean Genome Project	KOREAN	Study-wide	1832	T=0.6692	C=0.3308
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.800	C=0.200
Northern Sweden	ACPOP	Study-wide	600	T=0.815	C=0.185
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.822	C=0.178
SGDP_PRJ	Global	Study-wide	284	T=0.377	C=0.623
Qatari	Global	Study-wide	216	T=0.676	C=0.324
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.547	C=0.453
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	58	T=0.72	C=0.28
The Danish reference pan genome	Danish	Study-wide	40	T=0.78	C=0.23
Siberian	Global	Study-wide	22	T=0.36	C=0.64

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 11	NC_000011.10:g.72221370T>C
GRCh37.p13 chr 11	NC_000011.9:g.71932414T>C
INPPL1 RefSeqGene	NG_023253.2:g.1533T>C

Gene: FOLR2, folate receptor beta (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FOLR2 transcript variant 1	NM_000803.5:c.475+59T>C	N/A	Intron Variant
FOLR2 transcript variant 2	NM_001113534.2:c.475+59T>C	N/A	Intron Variant
FOLR2 transcript variant 3	NM_001113535.2:c.475+59T>C	N/A	Intron Variant
FOLR2 transcript variant 4	NM_001113536.2:c.475+59T>C	N/A	Intron Variant
FOLR2 transcript variant X1	XM_005273856.5:c.502+59T>C	N/A	Intron Variant
FOLR2 transcript variant X2	XM_047426683.1:c.475+59T>C	N/A	Intron 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.

Not Reported in ClinVar

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	T=	C
GRCh38.p14 chr 11	NC_000011.10:g.72221370=	NC_000011.10:g.72221370T>C
GRCh37.p13 chr 11	NC_000011.9:g.71932414=	NC_000011.9:g.71932414T>C
INPPL1 RefSeqGene	NG_023253.2:g.1533=	NG_023253.2:g.1533T>C
FOLR2 transcript variant 1	NM_000803.4:c.475+59=	NM_000803.4:c.475+59T>C
FOLR2 transcript variant 1	NM_000803.5:c.475+59=	NM_000803.5:c.475+59T>C
FOLR2 transcript variant 2	NM_001113534.1:c.475+59=	NM_001113534.1:c.475+59T>C
FOLR2 transcript variant 2	NM_001113534.2:c.475+59=	NM_001113534.2:c.475+59T>C
FOLR2 transcript variant 3	NM_001113535.1:c.475+59=	NM_001113535.1:c.475+59T>C
FOLR2 transcript variant 3	NM_001113535.2:c.475+59=	NM_001113535.2:c.475+59T>C
FOLR2 transcript variant 4	NM_001113536.1:c.475+59=	NM_001113536.1:c.475+59T>C
FOLR2 transcript variant 4	NM_001113536.2:c.475+59=	NM_001113536.2:c.475+59T>C
FOLR2 transcript variant X1	XM_005273854.1:c.520+59=	XM_005273854.1:c.520+59T>C
FOLR2 transcript variant X2	XM_005273855.1:c.514+59=	XM_005273855.1:c.514+59T>C
FOLR2 transcript variant X3	XM_005273856.1:c.502+59=	XM_005273856.1:c.502+59T>C
FOLR2 transcript variant X1	XM_005273856.5:c.502+59=	XM_005273856.5:c.502+59T>C
FOLR2 transcript variant X2	XM_047426683.1:c.475+59=	XM_047426683.1:c.475+59T>C

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#.

114 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3243299	Sep 28, 2001 (100)
2	ABI	ss38719357	Mar 13, 2006 (126)
3	ILLUMINA	ss74975523	Dec 06, 2007 (129)
4	HUMANGENOME_JCVI	ss97488348	Feb 02, 2009 (130)
5	BGI	ss106751562	Feb 02, 2009 (130)
6	1000GENOMES	ss110644395	Jan 25, 2009 (130)
7	KRIBB_YJKIM	ss119429573	Dec 01, 2009 (131)
8	ILLUMINA-UK	ss119888178	Dec 01, 2009 (131)
9	ENSEMBL	ss139778866	Dec 01, 2009 (131)
10	GMI	ss156467048	Dec 01, 2009 (131)
11	ILLUMINA	ss160532754	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss170212635	Jul 04, 2010 (132)
13	ILLUMINA	ss173270684	Jul 04, 2010 (132)
14	BUSHMAN	ss202866170	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss207713651	Jul 04, 2010 (132)
16	1000GENOMES	ss211151208	Jul 14, 2010 (132)
17	1000GENOMES	ss225307480	Jul 14, 2010 (132)
18	1000GENOMES	ss235607504	Jul 15, 2010 (132)
19	1000GENOMES	ss242230350	Jul 15, 2010 (132)
20	GMI	ss281062084	May 04, 2012 (137)
21	PJP	ss291070969	May 09, 2011 (134)
22	ILLUMINA	ss480519950	May 04, 2012 (137)
23	ILLUMINA	ss480534648	May 04, 2012 (137)
24	ILLUMINA	ss481345462	Sep 08, 2015 (146)
25	ILLUMINA	ss485057297	May 04, 2012 (137)
26	ILLUMINA	ss537073733	Sep 08, 2015 (146)
27	TISHKOFF	ss562643151	Apr 25, 2013 (138)
28	SSMP	ss658159490	Apr 25, 2013 (138)
29	ILLUMINA	ss779038750	Aug 21, 2014 (142)
30	ILLUMINA	ss782974872	Sep 08, 2015 (146)
31	ILLUMINA	ss783936122	Aug 21, 2014 (142)
32	ILLUMINA	ss832231255	Sep 08, 2015 (146)
33	ILLUMINA	ss834501558	Aug 21, 2014 (142)
34	EVA-GONL	ss988662842	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1077824914	Aug 21, 2014 (142)
36	1000GENOMES	ss1341833986	Aug 21, 2014 (142)
37	DDI	ss1426672880	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1575788404	Apr 01, 2015 (144)
39	EVA_DECODE	ss1598323899	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1626868373	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1669862406	Apr 01, 2015 (144)
42	EVA_MGP	ss1711301391	Apr 01, 2015 (144)
43	EVA_SVP	ss1713263373	Apr 01, 2015 (144)
44	ILLUMINA	ss1752030895	Sep 08, 2015 (146)
45	HAMMER_LAB	ss1806871571	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1932021580	Feb 12, 2016 (147)
47	GENOMED	ss1967389436	Jul 19, 2016 (147)
48	JJLAB	ss2026754765	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2155064653	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2183432541	Dec 20, 2016 (150)
51	SYSTEMSBIOZJU	ss2627851703	Nov 08, 2017 (151)
52	ILLUMINA	ss2632849410	Nov 08, 2017 (151)
53	GRF	ss2699359871	Nov 08, 2017 (151)
54	GNOMAD	ss2901260932	Nov 08, 2017 (151)
55	AFFY	ss2984949318	Nov 08, 2017 (151)
56	AFFY	ss2985591906	Nov 08, 2017 (151)
57	SWEGEN	ss3008326097	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3027174852	Nov 08, 2017 (151)
59	CSHL	ss3349662712	Nov 08, 2017 (151)
60	ILLUMINA	ss3626687376	Oct 12, 2018 (152)
61	ILLUMINA	ss3630865533	Oct 12, 2018 (152)
62	ILLUMINA	ss3632989741	Oct 12, 2018 (152)
63	ILLUMINA	ss3633689290	Oct 12, 2018 (152)
64	ILLUMINA	ss3634462480	Oct 12, 2018 (152)
65	ILLUMINA	ss3635380812	Oct 12, 2018 (152)
66	ILLUMINA	ss3636145782	Oct 12, 2018 (152)
67	ILLUMINA	ss3637131680	Oct 12, 2018 (152)
68	ILLUMINA	ss3637914716	Oct 12, 2018 (152)
69	ILLUMINA	ss3640169819	Oct 12, 2018 (152)
70	ILLUMINA	ss3642912443	Oct 12, 2018 (152)
71	OMUKHERJEE_ADBS	ss3646429836	Oct 12, 2018 (152)
72	URBANLAB	ss3649640608	Oct 12, 2018 (152)
73	ILLUMINA	ss3653721449	Oct 12, 2018 (152)
74	EGCUT_WGS	ss3675644856	Jul 13, 2019 (153)
75	EVA_DECODE	ss3692057706	Jul 13, 2019 (153)
76	ACPOP	ss3738294941	Jul 13, 2019 (153)
77	ILLUMINA	ss3744763300	Jul 13, 2019 (153)
78	EVA	ss3749466737	Jul 13, 2019 (153)
79	ILLUMINA	ss3772263162	Jul 13, 2019 (153)
80	KHV_HUMAN_GENOMES	ss3814804165	Jul 13, 2019 (153)
81	EVA	ss3825804541	Apr 26, 2020 (154)
82	EVA	ss3832695037	Apr 26, 2020 (154)
83	EVA	ss3839906403	Apr 26, 2020 (154)
84	EVA	ss3845386501	Apr 26, 2020 (154)
85	SGDP_PRJ	ss3876549427	Apr 26, 2020 (154)
86	KRGDB	ss3924949920	Apr 26, 2020 (154)
87	KOGIC	ss3970207551	Apr 26, 2020 (154)
88	FSA-LAB	ss3984008545	Apr 26, 2021 (155)
89	EVA	ss3985540364	Apr 26, 2021 (155)
90	EVA	ss3986536834	Apr 26, 2021 (155)
91	EVA	ss4017544392	Apr 26, 2021 (155)
92	TOPMED	ss4890088515	Apr 26, 2021 (155)
93	TOMMO_GENOMICS	ss5202631352	Apr 26, 2021 (155)
94	FAHOSYSU	ss5240819074	Oct 16, 2022 (156)
95	1000G_HIGH_COVERAGE	ss5287918038	Oct 16, 2022 (156)
96	GENOGRAPHIC	ss5314546036	Oct 16, 2022 (156)
97	EVA	ss5315554679	Oct 16, 2022 (156)
98	EVA	ss5400459547	Oct 16, 2022 (156)
99	HUGCELL_USP	ss5483026167	Oct 16, 2022 (156)
100	1000G_HIGH_COVERAGE	ss5583883162	Oct 16, 2022 (156)
101	EVA	ss5623954436	Oct 16, 2022 (156)
102	SANFORD_IMAGENETICS	ss5651500304	Oct 16, 2022 (156)
103	TOMMO_GENOMICS	ss5750720999	Oct 16, 2022 (156)
104	EVA	ss5799846151	Oct 16, 2022 (156)
105	EVA	ss5800170093	Oct 16, 2022 (156)
106	YY_MCH	ss5812537511	Oct 16, 2022 (156)
107	EVA	ss5836849639	Oct 16, 2022 (156)
108	EVA	ss5848331583	Oct 16, 2022 (156)
109	EVA	ss5850032004	Oct 16, 2022 (156)
110	EVA	ss5920528072	Oct 16, 2022 (156)
111	EVA	ss5936549861	Oct 16, 2022 (156)
112	EVA	ss5942810306	Oct 16, 2022 (156)
113	EVA	ss5980687886	Oct 16, 2022 (156)
114	EVA	ss5981269646	Oct 16, 2022 (156)
115	1000Genomes	NC_000011.9 - 71932414	Oct 12, 2018 (152)
116	1000Genomes_30x	NC_000011.10 - 72221370	Oct 16, 2022 (156)
117	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 71932414	Oct 12, 2018 (152)
118	Genetic variation in the Estonian population	NC_000011.9 - 71932414	Oct 12, 2018 (152)
119	Genographic Project	NC_000011.10 - 72221370	Oct 16, 2022 (156)
120	The Danish reference pan genome	NC_000011.9 - 71932414	Apr 26, 2020 (154)
121	gnomAD - Genomes	NC_000011.10 - 72221370	Apr 26, 2021 (155)
122	Genome of the Netherlands Release 5	NC_000011.9 - 71932414	Apr 26, 2020 (154)
123	HapMap	NC_000011.10 - 72221370	Apr 26, 2020 (154)
124	KOREAN population from KRGDB	NC_000011.9 - 71932414	Apr 26, 2020 (154)
125	Korean Genome Project	NC_000011.10 - 72221370	Apr 26, 2020 (154)
126	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 71932414	Apr 26, 2020 (154)
127	Northern Sweden	NC_000011.9 - 71932414	Jul 13, 2019 (153)
128	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 71932414	Apr 26, 2021 (155)
129	Qatari	NC_000011.9 - 71932414	Apr 26, 2020 (154)
130	SGDP_PRJ	NC_000011.9 - 71932414	Apr 26, 2020 (154)
131	Siberian	NC_000011.9 - 71932414	Apr 26, 2020 (154)
132	8.3KJPN	NC_000011.9 - 71932414	Apr 26, 2021 (155)
133	14KJPN	NC_000011.10 - 72221370	Oct 16, 2022 (156)
134	TopMed	NC_000011.10 - 72221370	Apr 26, 2021 (155)
135	UK 10K study - Twins	NC_000011.9 - 71932414	Oct 12, 2018 (152)
136	A Vietnamese Genetic Variation Database	NC_000011.9 - 71932414	Jul 13, 2019 (153)
137	ALFA	NC_000011.10 - 72221370	Apr 26, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss110644395, ss119888178, ss160532754, ss170212635, ss202866170, ss207713651, ss211151208, ss281062084, ss291070969, ss480519950, ss1598323899, ss1713263373, ss3642912443	NC_000011.8:71610061:T:C	NC_000011.10:72221369:T:C	(self)
54375046, 30180551, 21383104, 2618922, 13467153, 32127314, 417151, 11579806, 766291, 14063510, 28566407, 7581007, 60600659, 30180551, 6696616, ss225307480, ss235607504, ss242230350, ss480534648, ss481345462, ss485057297, ss537073733, ss562643151, ss658159490, ss779038750, ss782974872, ss783936122, ss832231255, ss834501558, ss988662842, ss1077824914, ss1341833986, ss1426672880, ss1575788404, ss1626868373, ss1669862406, ss1711301391, ss1752030895, ss1806871571, ss1932021580, ss1967389436, ss2026754765, ss2155064653, ss2627851703, ss2632849410, ss2699359871, ss2901260932, ss2984949318, ss2985591906, ss3008326097, ss3349662712, ss3626687376, ss3630865533, ss3632989741, ss3633689290, ss3634462480, ss3635380812, ss3636145782, ss3637131680, ss3637914716, ss3640169819, ss3646429836, ss3653721449, ss3675644856, ss3738294941, ss3744763300, ss3749466737, ss3772263162, ss3825804541, ss3832695037, ss3839906403, ss3876549427, ss3924949920, ss3984008545, ss3985540364, ss3986536834, ss4017544392, ss5202631352, ss5315554679, ss5400459547, ss5623954436, ss5651500304, ss5799846151, ss5800170093, ss5836849639, ss5848331583, ss5936549861, ss5942810306, ss5980687886, ss5981269646	NC_000011.9:71932413:T:C	NC_000011.10:72221369:T:C	(self)
71409097, 104057, 383803546, 635101, 26585552, 84558103, 105634171, 14371605149, ss2183432541, ss3027174852, ss3649640608, ss3692057706, ss3814804165, ss3845386501, ss3970207551, ss4890088515, ss5240819074, ss5287918038, ss5314546036, ss5483026167, ss5583883162, ss5750720999, ss5812537511, ss5850032004, ss5920528072	NC_000011.10:72221369:T:C	NC_000011.10:72221369:T:C	(self)
ss3243299, ss38719357, ss74975523, ss97488348, ss106751562, ss119429573, ss139778866, ss156467048, ss173270684	NT_167190.1:17238208:T:C	NC_000011.10:72221369:T:C	(self)

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

8 citations for rs2298444

PMID	Title	Author	Year	Journal
17035141	Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.	Boyles AL et al.	2006	Environmental health perspectives
19048631	Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.	Boyles AL et al.	2009	Genetic epidemiology
19493349	118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.	Shaw GM et al.	2009	BMC medical genetics
21254359	Folate pathway and nonsyndromic cleft lip and palate.	Blanton SH et al.	2011	Birth defects research. Part A, Clinical and molecular teratology
21610500	Prenatal vitamins, one-carbon metabolism gene variants, and risk for autism.	Schmidt RJ et al.	2011	Epidemiology (Cambridge, Mass.)
30676283	Autistic traits and components of the folate metabolic system: an explorative analysis in the eastern Indian ASD subjects.	Saha S et al.	2020	Nutritional neuroscience
33195260	Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.	Martinelli M et al.	2020	Frontiers in cell and developmental biology
35273364	Association of polymorphisms of FOLR1 gene and FOLR2 gene and maternal folic acid supplementation with risk of ventricular septal defect: a case-control study.	Song X et al.	2022	European journal of clinical nutrition

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

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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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2298444