Name: rs2228387
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.

rs2228387

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:111911560 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.011946 (3162/264690, TOPMED)
T=0.015395 (3821/248196, GnomAD_exome)
T=0.013032 (1826/140122, GnomAD) (+ 20 more)
T=0.01935 (1898/98108, ExAC)
T=0.01751 (1158/66132, ALFA)
T=0.00011 (3/28258, 14KJPN)
T=0.00006 (1/16758, 8.3KJPN)
T=0.01647 (214/12996, GO-ESP)
T=0.0097 (62/6404, 1000G_30x)
T=0.0092 (46/5008, 1000G)
T=0.0239 (107/4480, Estonian)
T=0.0231 (89/3854, ALSPAC)
T=0.0173 (64/3708, TWINSUK)
T=0.020 (20/998, GoNL)
T=0.040 (24/600, NorthernSweden)
T=0.013 (7/534, MGP)
T=0.021 (6/288, FINRISK)
T=0.014 (3/216, Qatari)
T=0.05 (2/40, GENOME_DK)
C=0.50 (6/12, SGDP_PRJ)
T=0.50 (6/12, SGDP_PRJ)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CRYAB : Synonymous Variant
HSPB2 : 2KB Upstream Variant
HSPB2-C11orf52 : 2KB Upstream Variant
Publications: 5 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	82450	C=0.98312	T=0.01688
European	Sub	63048	C=0.98062	T=0.01938
African	Sub	8744	C=0.9970	T=0.0030
African Others	Sub	314	C=0.997	T=0.003
African American	Sub	8430	C=0.9970	T=0.0030
Asian	Sub	456	C=1.000	T=0.000
East Asian	Sub	368	C=1.000	T=0.000
Other Asian	Sub	88	C=1.00	T=0.00
Latin American 1	Sub	532	C=0.991	T=0.009
Latin American 2	Sub	798	C=0.997	T=0.003
South Asian	Sub	116	C=0.991	T=0.009
Other	Sub	8756	C=0.9845	T=0.0155

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
TopMed	Global	Study-wide	264690	C=0.988054	T=0.011946
gnomAD - Exomes	Global	Study-wide	248196	C=0.984605	T=0.015395
gnomAD - Exomes	European	Sub	133544	C=0.980066	T=0.019934
gnomAD - Exomes	Asian	Sub	48408	C=0.98354	T=0.01646
gnomAD - Exomes	American	Sub	34310	C=0.99542	T=0.00458
gnomAD - Exomes	African	Sub	15924	C=0.99717	T=0.00283
gnomAD - Exomes	Ashkenazi Jewish	Sub	9982	C=0.9931	T=0.0069
gnomAD - Exomes	Other	Sub	6028	C=0.9849	T=0.0151
gnomAD - Genomes	Global	Study-wide	140122	C=0.986968	T=0.013032
gnomAD - Genomes	European	Sub	75904	C=0.98028	T=0.01972
gnomAD - Genomes	African	Sub	41978	C=0.99600	T=0.00400
gnomAD - Genomes	American	Sub	13636	C=0.99135	T=0.00865
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9940	T=0.0060
gnomAD - Genomes	East Asian	Sub	3132	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2150	C=0.9893	T=0.0107
ExAC	Global	Study-wide	98108	C=0.98065	T=0.01935
ExAC	Europe	Sub	60368	C=0.97694	T=0.02306
ExAC	Asian	Sub	20352	C=0.97956	T=0.02044
ExAC	American	Sub	8378	C=0.9946	T=0.0054
ExAC	African	Sub	8328	C=0.9960	T=0.0040
ExAC	Other	Sub	682	C=0.982	T=0.018
Allele Frequency Aggregator	Total	Global	66132	C=0.98249	T=0.01751
Allele Frequency Aggregator	European	Sub	52996	C=0.98066	T=0.01934
Allele Frequency Aggregator	Other	Sub	7328	C=0.9851	T=0.0149
Allele Frequency Aggregator	African	Sub	3906	C=0.9959	T=0.0041
Allele Frequency Aggregator	Latin American 2	Sub	798	C=0.997	T=0.003
Allele Frequency Aggregator	Latin American 1	Sub	532	C=0.991	T=0.009
Allele Frequency Aggregator	Asian	Sub	456	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	116	C=0.991	T=0.009
14KJPN	JAPANESE	Study-wide	28258	C=0.99989	T=0.00011
8.3KJPN	JAPANESE	Study-wide	16758	C=0.99994	T=0.00006
GO Exome Sequencing Project	Global	Study-wide	12996	C=0.98353	T=0.01647
GO Exome Sequencing Project	European American	Sub	8594	C=0.9774	T=0.0226
GO Exome Sequencing Project	African American	Sub	4402	C=0.9955	T=0.0045
1000Genomes_30x	Global	Study-wide	6404	C=0.9903	T=0.0097
1000Genomes_30x	African	Sub	1786	C=1.0000	T=0.0000
1000Genomes_30x	Europe	Sub	1266	C=0.9795	T=0.0205
1000Genomes_30x	South Asian	Sub	1202	C=0.9792	T=0.0208
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.989	T=0.011
1000Genomes	Global	Study-wide	5008	C=0.9908	T=0.0092
1000Genomes	African	Sub	1322	C=1.0000	T=0.0000
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9811	T=0.0189
1000Genomes	South Asian	Sub	978	C=0.981	T=0.019
1000Genomes	American	Sub	694	C=0.988	T=0.012
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9761	T=0.0239
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9769	T=0.0231
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9827	T=0.0173
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.980	T=0.020
Northern Sweden	ACPOP	Study-wide	600	C=0.960	T=0.040
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.987	T=0.013
FINRISK	Finnish from FINRISK project	Study-wide	288	C=0.979	T=0.021
Qatari	Global	Study-wide	216	C=0.986	T=0.014
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
SGDP_PRJ	Global	Study-wide	12	C=0.50	T=0.50
Siberian	Global	Study-wide	2	C=0.5	T=0.5

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.111911560C>G
GRCh38.p14 chr 11	NC_000011.10:g.111911560C>T
GRCh37.p13 chr 11	NC_000011.9:g.111782284C>G
GRCh37.p13 chr 11	NC_000011.9:g.111782284C>T
CRYAB RefSeqGene (LRG_407)	NG_009824.3:g.17163G>C
CRYAB RefSeqGene (LRG_407)	NG_009824.3:g.17163G>A
HSPB2 RefSeqGene	NG_033080.2:g.3825C>G
HSPB2 RefSeqGene	NG_033080.2:g.3825C>T
GRCh37.p13 chr 11 fix patch HG388_HG400_PATCH	NW_003871080.1:g.163551C>G
GRCh37.p13 chr 11 fix patch HG388_HG400_PATCH	NW_003871080.1:g.163551C>T

Gene: CRYAB, crystallin alpha B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CRYAB transcript variant 4	NM_001330379.1:c.	N/A	Genic Upstream Transcript Variant
CRYAB transcript variant 6	NM_001368246.1:c.	N/A	Genic Upstream Transcript Variant
CRYAB transcript variant 2	NM_001289807.1:c.165G>C	L [CTG] > L [CTC]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001276736.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant
CRYAB transcript variant 2	NM_001289807.1:c.165G>A	L [CTG] > L [CTA]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001276736.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant
CRYAB transcript variant 5	NM_001368245.1:c.165G>C	L [CTG] > L [CTC]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001355174.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant
CRYAB transcript variant 5	NM_001368245.1:c.165G>A	L [CTG] > L [CTA]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001355174.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant
CRYAB transcript variant 3	NM_001289808.2:c.165G>C	L [CTG] > L [CTC]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001276737.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant
CRYAB transcript variant 3	NM_001289808.2:c.165G>A	L [CTG] > L [CTA]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001276737.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant
CRYAB transcript variant 1	NM_001885.3:c.165G>C	L [CTG] > L [CTC]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001876.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant
CRYAB transcript variant 1	NM_001885.3:c.165G>A	L [CTG] > L [CTA]	Coding Sequence Variant
alpha-crystallin B chain isoform 1	NP_001876.1:p.Leu55=	L (Leu) > L (Leu)	Synonymous Variant

Gene: HSPB2, heat shock protein family B (small) member 2 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
HSPB2 transcript	NM_001541.4:c.	N/A	Upstream Transcript Variant

Gene: HSPB2-C11orf52, HSPB2-C11orf52 readthrough (NMD candidate) (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
HSPB2-C11orf52 transcript	NR_037651.1:n.	N/A	Upstream 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: T (allele ID: 53400 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000037212.14	not specified	Benign
RCV000205646.10	Dilated cardiomyopathy 1II	Benign
RCV000244212.2	Cardiovascular phenotype	Benign
RCV000265252.4	Fatal infantile hypertonic myofibrillar myopathy	Benign
RCV000323760.4	Cataract 16 multiple types	Benign
RCV000378467.4	Myofibrillar Myopathy, Dominant	Benign
RCV000991843.6	not provided	Benign

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	C=	G	T
GRCh38.p14 chr 11	NC_000011.10:g.111911560=	NC_000011.10:g.111911560C>G	NC_000011.10:g.111911560C>T
GRCh37.p13 chr 11	NC_000011.9:g.111782284=	NC_000011.9:g.111782284C>G	NC_000011.9:g.111782284C>T
CRYAB RefSeqGene (LRG_407)	NG_009824.3:g.17163=	NG_009824.3:g.17163G>C	NG_009824.3:g.17163G>A
CRYAB transcript variant 1	NM_001885.3:c.165=	NM_001885.3:c.165G>C	NM_001885.3:c.165G>A
CRYAB transcript variant 1	NM_001885.2:c.165=	NM_001885.2:c.165G>C	NM_001885.2:c.165G>A
CRYAB transcript	NM_001885.1:c.165=	NM_001885.1:c.165G>C	NM_001885.1:c.165G>A
CRYAB transcript variant 3	NM_001289808.2:c.165=	NM_001289808.2:c.165G>C	NM_001289808.2:c.165G>A
CRYAB transcript variant 3	NM_001289808.1:c.165=	NM_001289808.1:c.165G>C	NM_001289808.1:c.165G>A
CRYAB transcript variant 5	NM_001368245.1:c.165=	NM_001368245.1:c.165G>C	NM_001368245.1:c.165G>A
CRYAB transcript variant 2	NM_001289807.1:c.165=	NM_001289807.1:c.165G>C	NM_001289807.1:c.165G>A
HSPB2 RefSeqGene	NG_033080.2:g.3825=	NG_033080.2:g.3825C>G	NG_033080.2:g.3825C>T
GRCh37.p13 chr 11 fix patch HG388_HG400_PATCH	NW_003871080.1:g.163551=	NW_003871080.1:g.163551C>G	NW_003871080.1:g.163551C>T
alpha-crystallin B chain isoform 1	NP_001876.1:p.Leu55=	NP_001876.1:p.Leu55=	NP_001876.1:p.Leu55=
alpha-crystallin B chain isoform 1	NP_001276737.1:p.Leu55=	NP_001276737.1:p.Leu55=	NP_001276737.1:p.Leu55=
alpha-crystallin B chain isoform 1	NP_001355174.1:p.Leu55=	NP_001355174.1:p.Leu55=	NP_001355174.1:p.Leu55=
alpha-crystallin B chain isoform 1	NP_001276736.1:p.Leu55=	NP_001276736.1:p.Leu55=	NP_001276736.1:p.Leu55=

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#.

65 SubSNP, 21 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	EGP_SNPS	ss5608503	Feb 20, 2003 (130)
2	PERLEGEN	ss24560603	Sep 20, 2004 (130)
3	SI_EXO	ss76891364	Dec 07, 2007 (129)
4	CORNELL	ss86240161	Mar 23, 2008 (129)
5	KRIBB_YJKIM	ss104801658	Feb 04, 2009 (130)
6	1000GENOMES	ss111084961	Jan 25, 2009 (130)
7	SEATTLESEQ	ss159724723	Dec 01, 2009 (131)
8	ILLUMINA	ss159848921	Dec 01, 2009 (131)
9	ILLUMINA	ss168944583	Jul 04, 2010 (132)
10	BUSHMAN	ss203214830	Jul 04, 2010 (132)
11	1000GENOMES	ss235720891	Jul 15, 2010 (132)
12	NHLBI-ESP	ss342340301	May 09, 2011 (134)
13	ILLUMINA	ss479155769	Sep 11, 2015 (146)
14	1000GENOMES	ss491029175	May 04, 2012 (137)
15	CLINSEQ_SNP	ss491653986	May 04, 2012 (137)
16	ILLUMINA	ss532734966	Sep 11, 2015 (146)
17	EVA-GONL	ss988967513	Aug 21, 2014 (142)
18	1000GENOMES	ss1342982410	Aug 21, 2014 (142)
19	EVA_GENOME_DK	ss1575955936	Apr 09, 2015 (144)
20	EVA_FINRISK	ss1584077985	Apr 09, 2015 (144)
21	EVA_DECODE	ss1598632745	Apr 01, 2015 (144)
22	EVA_UK10K_ALSPAC	ss1627471285	Apr 09, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1670465318	Apr 09, 2015 (144)
24	EVA_EXAC	ss1690631421	Apr 09, 2015 (144)
25	EVA_MGP	ss1711308660	Apr 09, 2015 (144)
26	EVA_MCP	ss1815615504	Sep 11, 2015 (146)
27	WEILL_CORNELL_DGM	ss1932328623	Feb 17, 2016 (147)
28	JJLAB	ss2026908509	Sep 28, 2016 (149)
29	USC_VALOUEV	ss2155221001	Oct 12, 2018 (152)
30	HUMAN_LONGEVITY	ss2185742410	Dec 20, 2016 (150)
31	GNOMAD	ss2739386110	Oct 12, 2018 (152)
32	GNOMAD	ss2748739024	Oct 12, 2018 (152)
33	GNOMAD	ss2904508346	Oct 12, 2018 (152)
34	AFFY	ss2984957242	Oct 12, 2018 (152)
35	SWEGEN	ss3008787159	Oct 12, 2018 (152)
36	ILLUMINA	ss3626750658	Oct 12, 2018 (152)
37	ILLUMINA	ss3636159740	Oct 12, 2018 (152)
38	ILLUMINA	ss3637930564	Oct 12, 2018 (152)
39	OMUKHERJEE_ADBS	ss3646432731	Oct 12, 2018 (152)
40	ILLUMINA	ss3653729335	Oct 12, 2018 (152)
41	EGCUT_WGS	ss3676113630	Jul 13, 2019 (153)
42	EVA_DECODE	ss3692607245	Jul 13, 2019 (153)
43	ACPOP	ss3738544048	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3815148158	Jul 13, 2019 (153)
45	EVA	ss3824671086	Apr 26, 2020 (154)
46	EVA	ss3825809304	Apr 26, 2020 (154)
47	EVA	ss3836376907	Apr 26, 2020 (154)
48	EVA	ss3839982668	Apr 26, 2020 (154)
49	EVA	ss3845464343	Apr 26, 2020 (154)
50	SGDP_PRJ	ss3877146770	Apr 26, 2020 (154)
51	EVA	ss3986545127	Apr 26, 2021 (155)
52	GNOMAD	ss4242595767	Apr 26, 2021 (155)
53	TOPMED	ss4900132509	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5203909975	Apr 26, 2021 (155)
55	EVA	ss5237658518	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5288917307	Oct 16, 2022 (156)
57	EVA	ss5402270336	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5483904001	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5585410468	Oct 16, 2022 (156)
60	SANFORD_IMAGENETICS	ss5652081861	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5752363095	Oct 16, 2022 (156)
62	EVA	ss5837235072	Oct 16, 2022 (156)
63	EVA	ss5848337036	Oct 16, 2022 (156)
64	EVA	ss5921673940	Oct 16, 2022 (156)
65	EVA	ss5943410299	Oct 16, 2022 (156)
66	1000Genomes	NC_000011.9 - 111782284	Oct 12, 2018 (152)
67	1000Genomes_30x	NC_000011.10 - 111911560	Oct 16, 2022 (156)
68	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 111782284	Oct 12, 2018 (152)
69	Genetic variation in the Estonian population	NC_000011.9 - 111782284	Oct 12, 2018 (152)
70	ExAC	NC_000011.9 - 111782284	Oct 12, 2018 (152)
71	FINRISK	NC_000011.9 - 111782284	Apr 26, 2020 (154)
72	The Danish reference pan genome	NC_000011.9 - 111782284	Apr 26, 2020 (154)
73	gnomAD - Genomes	NC_000011.10 - 111911560	Apr 26, 2021 (155)
74	gnomAD - Exomes	NC_000011.9 - 111782284	Jul 13, 2019 (153)
75	GO Exome Sequencing Project	NC_000011.9 - 111782284	Oct 12, 2018 (152)
76	Genome of the Netherlands Release 5	NC_000011.9 - 111782284	Apr 26, 2020 (154)
77	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 111782284	Apr 26, 2020 (154)
78	Northern Sweden	NC_000011.9 - 111782284	Jul 13, 2019 (153)
79	Qatari	NC_000011.9 - 111782284	Apr 26, 2020 (154)
80	SGDP_PRJ	NC_000011.9 - 111782284	Apr 26, 2020 (154)
81	Siberian	NC_000011.9 - 111782284	Apr 26, 2020 (154)
82	8.3KJPN	NC_000011.9 - 111782284	Apr 26, 2021 (155)
83	14KJPN	NC_000011.10 - 111911560	Oct 16, 2022 (156)
84	TopMed	NC_000011.10 - 111911560	Apr 26, 2021 (155)
85	UK 10K study - Twins	NC_000011.9 - 111782284	Oct 12, 2018 (152)
86	ALFA	NC_000011.10 - 111911560	Apr 26, 2021 (155)
87	ClinVar	RCV000037212.14	Oct 16, 2022 (156)
88	ClinVar	RCV000205646.10	Oct 16, 2022 (156)
89	ClinVar	RCV000244212.2	Oct 16, 2022 (156)
90	ClinVar	RCV000265252.4	Oct 16, 2022 (156)
91	ClinVar	RCV000323760.4	Oct 16, 2022 (156)
92	ClinVar	RCV000378467.4	Oct 16, 2022 (156)
93	ClinVar	RCV000991843.6	Oct 16, 2022 (156)

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)
rs4252581	May 24, 2008 (130)
rs17489700	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss203214830	NC_000011.8:111287493:C:G	NC_000011.10:111911559:C:G	(self)
ss111084961, ss491653986, ss1598632745	NC_000011.8:111287493:C:T	NC_000011.10:111911559:C:T	(self)
55565402, 30841523, 21851878, 907280, 74446, 2737423, 8604671, 1128625, 13764305, 424420, 11828913, 14370553, 29163750, 7737355, 61879282, 30841523, ss235720891, ss342340301, ss479155769, ss491029175, ss532734966, ss988967513, ss1342982410, ss1575955936, ss1584077985, ss1627471285, ss1670465318, ss1690631421, ss1711308660, ss1815615504, ss1932328623, ss2026908509, ss2155221001, ss2739386110, ss2748739024, ss2904508346, ss2984957242, ss3008787159, ss3626750658, ss3636159740, ss3637930564, ss3646432731, ss3653729335, ss3676113630, ss3738544048, ss3824671086, ss3825809304, ss3836376907, ss3839982668, ss3877146770, ss3986545127, ss5203909975, ss5402270336, ss5652081861, ss5837235072, ss5848337036, ss5943410299	NC_000011.9:111782283:C:T	NC_000011.10:111911559:C:T	(self)
RCV000037212.14, RCV000205646.10, RCV000244212.2, RCV000265252.4, RCV000323760.4, RCV000378467.4, RCV000991843.6, 72936403, 392095473, 86200199, 115678165, 2627689345, ss2185742410, ss3692607245, ss3815148158, ss3845464343, ss4242595767, ss4900132509, ss5237658518, ss5288917307, ss5483904001, ss5585410468, ss5752363095, ss5921673940	NC_000011.10:111911559:C:T	NC_000011.10:111911559:C:T	(self)
ss76891364	NT_033899.7:15344699:C:T	NC_000011.10:111911559:C:T	(self)
ss5608503, ss24560603, ss86240161, ss104801658, ss159724723, ss159848921, ss168944583	NT_033899.8:15344699:C:T	NC_000011.10:111911559:C:T	(self)

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

5 citations for rs2228387

PMID	Title	Author	Year	Journal
17601350	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.	Harris SE et al.	2007	BMC genetics
21915251	Association of alpha B-crystallin genotypes with oral cancer susceptibility, survival, and recurrence in Taiwan.	Bau DT et al.	2011	PloS one
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
30082880	Alpha B-crystallin C-802G polymorphism and colorectal cancer susceptibility and clinical outcome in Chinese population.	Wu X et al.	2018	Scientific reports

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
Top▲ Help
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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2228387