Name: rs294457
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.

rs294457

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:59913489 (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>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.272662 (72171/264690, TOPMED)
A=0.171364 (31571/184234, ALFA)
A=0.255165 (35718/139980, GnomAD) (+ 22 more)
A=0.35789 (28166/78700, PAGE_STUDY)
A=0.49770 (14064/28258, 14KJPN)
A=0.49588 (8311/16760, 8.3KJPN)
A=0.3296 (2111/6404, 1000G_30x)
A=0.3297 (1651/5008, 1000G)
A=0.1379 (618/4480, Estonian)
A=0.1367 (527/3854, ALSPAC)
A=0.1410 (523/3708, TWINSUK)
A=0.4584 (1343/2930, KOREAN)
A=0.2649 (552/2084, HGDP_Stanford)
A=0.3729 (704/1888, HapMap)
A=0.4874 (893/1832, Korea1K)
A=0.1761 (200/1136, Daghestan)
A=0.125 (125/998, GoNL)
A=0.465 (368/792, PRJEB37584)
A=0.132 (79/600, NorthernSweden)
A=0.185 (94/508, SGDP_PRJ)
A=0.259 (56/216, Qatari)
A=0.410 (87/212, Vietnamese)
A=0.21 (11/52, Siberian)
A=0.07 (3/40, GENOME_DK)
A=0.08 (2/26, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FHIT : Intron Variant
LOC105377113 : Non Coding Transcript Variant
Publications: 0 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	184328	A=0.171417	G=0.828583
European	Sub	160990	A=0.150544	G=0.849456
African	Sub	8402	A=0.4650	G=0.5350
African Others	Sub	294	A=0.537	G=0.463
African American	Sub	8108	A=0.4624	G=0.5376
Asian	Sub	454	A=0.396	G=0.604
East Asian	Sub	316	A=0.421	G=0.579
Other Asian	Sub	138	A=0.341	G=0.659
Latin American 1	Sub	520	A=0.265	G=0.735
Latin American 2	Sub	3862	A=0.1981	G=0.8019
South Asian	Sub	4998	A=0.2323	G=0.7677
Other	Sub	5102	A=0.2372	G=0.7628

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	A=0.272662	G=0.727338
Allele Frequency Aggregator	Total	Global	184234	A=0.171364	G=0.828636
Allele Frequency Aggregator	European	Sub	160914	A=0.150497	G=0.849503
Allele Frequency Aggregator	African	Sub	8402	A=0.4650	G=0.5350
Allele Frequency Aggregator	Other	Sub	5084	A=0.2366	G=0.7634
Allele Frequency Aggregator	South Asian	Sub	4998	A=0.2323	G=0.7677
Allele Frequency Aggregator	Latin American 2	Sub	3862	A=0.1981	G=0.8019
Allele Frequency Aggregator	Latin American 1	Sub	520	A=0.265	G=0.735
Allele Frequency Aggregator	Asian	Sub	454	A=0.396	G=0.604
gnomAD - Genomes	Global	Study-wide	139980	A=0.255165	G=0.744835
gnomAD - Genomes	European	Sub	75896	A=0.13995	G=0.86005
gnomAD - Genomes	African	Sub	41848	A=0.46700	G=0.53300
gnomAD - Genomes	American	Sub	13638	A=0.21117	G=0.78883
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.2614	G=0.7386
gnomAD - Genomes	East Asian	Sub	3122	A=0.4013	G=0.5987
gnomAD - Genomes	Other	Sub	2152	A=0.2560	G=0.7440
The PAGE Study	Global	Study-wide	78700	A=0.35789	G=0.64211
The PAGE Study	AfricanAmerican	Sub	32516	A=0.45817	G=0.54183
The PAGE Study	Mexican	Sub	10808	A=0.18348	G=0.81652
The PAGE Study	Asian	Sub	8318	A=0.4608	G=0.5392
The PAGE Study	PuertoRican	Sub	7918	A=0.3049	G=0.6951
The PAGE Study	NativeHawaiian	Sub	4534	A=0.3019	G=0.6981
The PAGE Study	Cuban	Sub	4230	A=0.2156	G=0.7844
The PAGE Study	Dominican	Sub	3828	A=0.3388	G=0.6612
The PAGE Study	CentralAmerican	Sub	2450	A=0.2437	G=0.7563
The PAGE Study	SouthAmerican	Sub	1982	A=0.1978	G=0.8022
The PAGE Study	NativeAmerican	Sub	1260	A=0.2103	G=0.7897
The PAGE Study	SouthAsian	Sub	856	A=0.241	G=0.759
14KJPN	JAPANESE	Study-wide	28258	A=0.49770	G=0.50230
8.3KJPN	JAPANESE	Study-wide	16760	A=0.49588	G=0.50412
1000Genomes_30x	Global	Study-wide	6404	A=0.3296	G=0.6704
1000Genomes_30x	African	Sub	1786	A=0.4950	G=0.5050
1000Genomes_30x	Europe	Sub	1266	A=0.1643	G=0.8357
1000Genomes_30x	South Asian	Sub	1202	A=0.2255	G=0.7745
1000Genomes_30x	East Asian	Sub	1170	A=0.4350	G=0.5650
1000Genomes_30x	American	Sub	980	A=0.244	G=0.756
1000Genomes	Global	Study-wide	5008	A=0.3297	G=0.6703
1000Genomes	African	Sub	1322	A=0.4909	G=0.5091
1000Genomes	East Asian	Sub	1008	A=0.4385	G=0.5615
1000Genomes	Europe	Sub	1006	A=0.1700	G=0.8300
1000Genomes	South Asian	Sub	978	A=0.225	G=0.775
1000Genomes	American	Sub	694	A=0.244	G=0.756
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.1379	G=0.8621
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.1367	G=0.8633
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.1410	G=0.8590
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4584	C=0.0000, G=0.5416, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.2649	G=0.7351
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.402	G=0.598
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.217	G=0.783
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.180	G=0.820
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.172	G=0.828
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.492	G=0.508
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.097	G=0.903
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.21	G=0.79
HapMap	Global	Study-wide	1888	A=0.3729	G=0.6271
HapMap	American	Sub	768	A=0.271	G=0.729
HapMap	African	Sub	690	A=0.494	G=0.506
HapMap	Asian	Sub	254	A=0.492	G=0.508
HapMap	Europe	Sub	176	A=0.170	G=0.830
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4874	G=0.5126
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.1761	G=0.8239
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.162	G=0.838
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.222	G=0.778
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.205	G=0.795
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.120	G=0.880
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.21	G=0.79
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.19	G=0.81
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.125	G=0.875
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.465	G=0.535
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.465	G=0.535
Northern Sweden	ACPOP	Study-wide	600	A=0.132	G=0.868
SGDP_PRJ	Global	Study-wide	508	A=0.185	G=0.815
Qatari	Global	Study-wide	216	A=0.259	G=0.741
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.410	G=0.590
Siberian	Global	Study-wide	52	A=0.21	G=0.79
The Danish reference pan genome	Danish	Study-wide	40	A=0.07	G=0.93
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	26	A=0.08	G=0.92

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 3	NC_000003.12:g.59913489A>C
GRCh38.p14 chr 3	NC_000003.12:g.59913489A>G
GRCh38.p14 chr 3	NC_000003.12:g.59913489A>T
GRCh37.p13 chr 3	NC_000003.11:g.59899215A>C
GRCh37.p13 chr 3	NC_000003.11:g.59899215A>G
GRCh37.p13 chr 3	NC_000003.11:g.59899215A>T
FHIT RefSeqGene	NG_007551.2:g.1342971T>G
FHIT RefSeqGene	NG_007551.2:g.1342971T>C
FHIT RefSeqGene	NG_007551.2:g.1342971T>A

Gene: FHIT, fragile histidine triad diadenosine triphosphatase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FHIT transcript variant 2	NM_001166243.3:c.348+8857… NM_001166243.3:c.348+8857T>G	N/A	Intron Variant
FHIT transcript variant 3	NM_001320899.2:c.348+8857… NM_001320899.2:c.348+8857T>G	N/A	Intron Variant
FHIT transcript variant 4	NM_001320900.2:c.348+8857… NM_001320900.2:c.348+8857T>G	N/A	Intron Variant
FHIT transcript variant 5	NM_001320901.2:c.180+8857… NM_001320901.2:c.180+8857T>G	N/A	Intron Variant
FHIT transcript variant 7	NM_001354589.2:c.279+9788… NM_001354589.2:c.279+97882T>G	N/A	Intron Variant
FHIT transcript variant 8	NM_001354590.2:c.279+9788… NM_001354590.2:c.279+97882T>G	N/A	Intron Variant
FHIT transcript variant 1	NM_002012.4:c.348+8857T>G	N/A	Intron Variant
FHIT transcript variant 6	NR_135491.2:n.	N/A	Intron Variant
FHIT transcript variant 9	NR_148921.2:n.	N/A	Genic Downstream Transcript Variant
FHIT transcript variant 10	NR_148922.2:n.	N/A	Genic Downstream Transcript Variant

Gene: LOC105377113, uncharacterized LOC105377113 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105377113 transcript variant X1	XR_007095936.1:n.34801A>C	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X1	XR_007095936.1:n.34801A>G	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X1	XR_007095936.1:n.34801A>T	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X2	XR_940887.4:n.34812A>C	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X2	XR_940887.4:n.34812A>G	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X2	XR_940887.4:n.34812A>T	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X3	XR_007095937.1:n.34743A>C	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X3	XR_007095937.1:n.34743A>G	N/A	Non Coding Transcript Variant
LOC105377113 transcript variant X3	XR_007095937.1:n.34743A>T	N/A	Non Coding 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.

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	A=	C	G	T
GRCh38.p14 chr 3	NC_000003.12:g.59913489=	NC_000003.12:g.59913489A>C	NC_000003.12:g.59913489A>G	NC_000003.12:g.59913489A>T
GRCh37.p13 chr 3	NC_000003.11:g.59899215=	NC_000003.11:g.59899215A>C	NC_000003.11:g.59899215A>G	NC_000003.11:g.59899215A>T
FHIT RefSeqGene	NG_007551.2:g.1342971=	NG_007551.2:g.1342971T>G	NG_007551.2:g.1342971T>C	NG_007551.2:g.1342971T>A
LOC105377113 transcript variant X2	XR_940887.4:n.34812=	XR_940887.4:n.34812A>C	XR_940887.4:n.34812A>G	XR_940887.4:n.34812A>T
LOC105377113 transcript variant X1	XR_007095936.1:n.34801=	XR_007095936.1:n.34801A>C	XR_007095936.1:n.34801A>G	XR_007095936.1:n.34801A>T
LOC105377113 transcript variant X3	XR_007095937.1:n.34743=	XR_007095937.1:n.34743A>C	XR_007095937.1:n.34743A>G	XR_007095937.1:n.34743A>T
FHIT transcript variant 2	NM_001166243.1:c.348+8857=	NM_001166243.1:c.348+8857T>G	NM_001166243.1:c.348+8857T>C	NM_001166243.1:c.348+8857T>A
FHIT transcript variant 2	NM_001166243.3:c.348+8857=	NM_001166243.3:c.348+8857T>G	NM_001166243.3:c.348+8857T>C	NM_001166243.3:c.348+8857T>A
FHIT transcript variant 3	NM_001320899.2:c.348+8857=	NM_001320899.2:c.348+8857T>G	NM_001320899.2:c.348+8857T>C	NM_001320899.2:c.348+8857T>A
FHIT transcript variant 4	NM_001320900.2:c.348+8857=	NM_001320900.2:c.348+8857T>G	NM_001320900.2:c.348+8857T>C	NM_001320900.2:c.348+8857T>A
FHIT transcript variant 5	NM_001320901.2:c.180+8857=	NM_001320901.2:c.180+8857T>G	NM_001320901.2:c.180+8857T>C	NM_001320901.2:c.180+8857T>A
FHIT transcript variant 7	NM_001354589.2:c.279+97882=	NM_001354589.2:c.279+97882T>G	NM_001354589.2:c.279+97882T>C	NM_001354589.2:c.279+97882T>A
FHIT transcript variant 8	NM_001354590.2:c.279+97882=	NM_001354590.2:c.279+97882T>G	NM_001354590.2:c.279+97882T>C	NM_001354590.2:c.279+97882T>A
FHIT transcript variant 1	NM_002012.2:c.348+8857=	NM_002012.2:c.348+8857T>G	NM_002012.2:c.348+8857T>C	NM_002012.2:c.348+8857T>A
FHIT transcript variant 1	NM_002012.4:c.348+8857=	NM_002012.4:c.348+8857T>G	NM_002012.4:c.348+8857T>C	NM_002012.4:c.348+8857T>A
FHIT transcript variant X1	XM_005264951.1:c.369+8857=	XM_005264951.1:c.369+8857T>G	XM_005264951.1:c.369+8857T>C	XM_005264951.1:c.369+8857T>A
FHIT transcript variant X2	XM_005264952.1:c.348+8857=	XM_005264952.1:c.348+8857T>G	XM_005264952.1:c.348+8857T>C	XM_005264952.1:c.348+8857T>A
FHIT transcript variant X3	XM_005264953.1:c.348+8857=	XM_005264953.1:c.348+8857T>G	XM_005264953.1:c.348+8857T>C	XM_005264953.1:c.348+8857T>A
FHIT transcript variant X4	XM_005264954.1:c.348+8857=	XM_005264954.1:c.348+8857T>G	XM_005264954.1:c.348+8857T>C	XM_005264954.1:c.348+8857T>A
FHIT transcript variant X5	XM_005264955.1:c.348+8857=	XM_005264955.1:c.348+8857T>G	XM_005264955.1:c.348+8857T>C	XM_005264955.1:c.348+8857T>A

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#.

141 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss380964	Jul 12, 2000 (79)
2	SC_JCM	ss760305	Aug 11, 2000 (85)
3	KWOK	ss919560	Oct 04, 2000 (86)
4	KWOK	ss920709	Oct 04, 2000 (86)
5	KWOK	ss2010958	Oct 18, 2000 (87)
6	TSC-CSHL	ss2693177	Jan 22, 2001 (92)
7	BCM_SSAHASNP	ss10032373	Jul 11, 2003 (116)
8	CSHL-HAPMAP	ss17739011	Feb 27, 2004 (120)
9	SSAHASNP	ss21970285	Apr 05, 2004 (121)
10	PERLEGEN	ss23914940	Sep 20, 2004 (123)
11	ABI	ss44417535	Mar 15, 2006 (126)
12	ILLUMINA	ss66615488	Nov 29, 2006 (127)
13	ILLUMINA	ss67284474	Nov 29, 2006 (127)
14	ILLUMINA	ss67687069	Nov 29, 2006 (127)
15	ILLUMINA	ss70763006	May 23, 2008 (130)
16	ILLUMINA	ss71337150	May 16, 2007 (127)
17	ILLUMINA	ss75446911	Dec 06, 2007 (129)
18	AFFY	ss76737969	Dec 06, 2007 (129)
19	HGSV	ss78255856	Dec 06, 2007 (129)
20	ILLUMINA	ss79154630	Dec 14, 2007 (130)
21	KRIBB_YJKIM	ss83416812	Dec 14, 2007 (130)
22	BCMHGSC_JDW	ss92103754	Mar 24, 2008 (129)
23	HUMANGENOME_JCVI	ss99095967	Feb 03, 2009 (130)
24	BGI	ss103941277	Dec 01, 2009 (131)
25	1000GENOMES	ss110211654	Jan 24, 2009 (130)
26	1000GENOMES	ss111770799	Jan 25, 2009 (130)
27	ILLUMINA-UK	ss117097895	Feb 14, 2009 (130)
28	ILLUMINA	ss122148090	Dec 01, 2009 (131)
29	ENSEMBL	ss135291286	Dec 01, 2009 (131)
30	ENSEMBL	ss138886575	Dec 01, 2009 (131)
31	ILLUMINA	ss154247593	Dec 01, 2009 (131)
32	ILLUMINA	ss159424474	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss163450220	Jul 04, 2010 (132)
34	ILLUMINA	ss171491946	Jul 04, 2010 (132)
35	ILLUMINA	ss173538013	Jul 04, 2010 (132)
36	BUSHMAN	ss202580385	Jul 04, 2010 (132)
37	BCM-HGSC-SUB	ss206016155	Jul 04, 2010 (132)
38	1000GENOMES	ss220160049	Jul 14, 2010 (132)
39	1000GENOMES	ss231837191	Jul 14, 2010 (132)
40	1000GENOMES	ss239247710	Jul 15, 2010 (132)
41	BL	ss253120611	May 09, 2011 (134)
42	GMI	ss277141515	May 04, 2012 (137)
43	GMI	ss284652978	Apr 25, 2013 (138)
44	PJP	ss292804283	May 09, 2011 (134)
45	ILLUMINA	ss480723859	May 04, 2012 (137)
46	ILLUMINA	ss480739550	May 04, 2012 (137)
47	ILLUMINA	ss485156663	May 04, 2012 (137)
48	ILLUMINA	ss537151234	Sep 08, 2015 (146)
49	TISHKOFF	ss556642628	Apr 25, 2013 (138)
50	SSMP	ss650321513	Apr 25, 2013 (138)
51	ILLUMINA	ss778885209	Sep 08, 2015 (146)
52	ILLUMINA	ss783024593	Sep 08, 2015 (146)
53	ILLUMINA	ss783984438	Sep 08, 2015 (146)
54	ILLUMINA	ss825485148	Apr 01, 2015 (144)
55	ILLUMINA	ss832282144	Sep 08, 2015 (146)
56	ILLUMINA	ss832936108	Jul 13, 2019 (153)
57	ILLUMINA	ss834346256	Sep 08, 2015 (146)
58	EVA-GONL	ss978637948	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1070442055	Aug 21, 2014 (142)
60	1000GENOMES	ss1304184617	Aug 21, 2014 (142)
61	HAMMER_LAB	ss1397338983	Sep 08, 2015 (146)
62	DDI	ss1429432307	Apr 01, 2015 (144)
63	EVA_GENOME_DK	ss1579980323	Apr 01, 2015 (144)
64	EVA_DECODE	ss1588109725	Apr 01, 2015 (144)
65	EVA_UK10K_ALSPAC	ss1607165660	Apr 01, 2015 (144)
66	EVA_UK10K_TWINSUK	ss1650159693	Apr 01, 2015 (144)
67	EVA_SVP	ss1712579071	Apr 01, 2015 (144)
68	ILLUMINA	ss1752477906	Sep 08, 2015 (146)
69	HAMMER_LAB	ss1799339020	Sep 08, 2015 (146)
70	WEILL_CORNELL_DGM	ss1921876848	Feb 12, 2016 (147)
71	ILLUMINA	ss1958569129	Feb 12, 2016 (147)
72	GENOMED	ss1969402335	Jul 19, 2016 (147)
73	JJLAB	ss2021497367	Sep 14, 2016 (149)
74	CSHL	ss2136694955	Nov 08, 2017 (151)
75	USC_VALOUEV	ss2149572366	Nov 08, 2017 (151)
76	HUMAN_LONGEVITY	ss2251960138	Dec 20, 2016 (150)
77	SYSTEMSBIOZJU	ss2625247155	Nov 08, 2017 (151)
78	ILLUMINA	ss2633954906	Nov 08, 2017 (151)
79	ILLUMINA	ss2635119474	Nov 08, 2017 (151)
80	GRF	ss2704948022	Nov 08, 2017 (151)
81	GNOMAD	ss2793486721	Nov 08, 2017 (151)
82	AFFY	ss2985259409	Nov 08, 2017 (151)
83	AFFY	ss2985877922	Nov 08, 2017 (151)
84	SWEGEN	ss2992387281	Nov 08, 2017 (151)
85	ILLUMINA	ss3022245574	Nov 08, 2017 (151)
86	BIOINF_KMB_FNS_UNIBA	ss3024511002	Nov 08, 2017 (151)
87	CSHL	ss3345038579	Nov 08, 2017 (151)
88	ILLUMINA	ss3625816856	Oct 12, 2018 (152)
89	ILLUMINA	ss3628671759	Oct 12, 2018 (152)
90	ILLUMINA	ss3631900658	Oct 12, 2018 (152)
91	ILLUMINA	ss3633293642	Oct 12, 2018 (152)
92	ILLUMINA	ss3634010740	Oct 12, 2018 (152)
93	ILLUMINA	ss3634898027	Oct 12, 2018 (152)
94	ILLUMINA	ss3635694653	Oct 12, 2018 (152)
95	ILLUMINA	ss3637447022	Oct 12, 2018 (152)
96	ILLUMINA	ss3638417773	Oct 12, 2018 (152)
97	ILLUMINA	ss3639211447	Oct 12, 2018 (152)
98	ILLUMINA	ss3639623796	Oct 12, 2018 (152)
99	ILLUMINA	ss3640605328	Oct 12, 2018 (152)
100	ILLUMINA	ss3643374549	Oct 12, 2018 (152)
101	ILLUMINA	ss3644817999	Oct 12, 2018 (152)
102	URBANLAB	ss3647412221	Oct 12, 2018 (152)
103	ILLUMINA	ss3652721480	Oct 12, 2018 (152)
104	ILLUMINA	ss3654027864	Oct 12, 2018 (152)
105	EGCUT_WGS	ss3660311477	Jul 13, 2019 (153)
106	EVA_DECODE	ss3709320822	Jul 13, 2019 (153)
107	ILLUMINA	ss3726021093	Jul 13, 2019 (153)
108	ACPOP	ss3729923817	Jul 13, 2019 (153)
109	ILLUMINA	ss3745198007	Jul 13, 2019 (153)
110	EVA	ss3760088325	Jul 13, 2019 (153)
111	PAGE_CC	ss3771036181	Jul 13, 2019 (153)
112	ILLUMINA	ss3772693425	Jul 13, 2019 (153)
113	PACBIO	ss3784326178	Jul 13, 2019 (153)
114	PACBIO	ss3789839915	Jul 13, 2019 (153)
115	PACBIO	ss3794713896	Jul 13, 2019 (153)
116	KHV_HUMAN_GENOMES	ss3803222579	Jul 13, 2019 (153)
117	EVA	ss3827831188	Apr 25, 2020 (154)
118	EVA	ss3837338640	Apr 25, 2020 (154)
119	EVA	ss3842764467	Apr 25, 2020 (154)
120	HGDP	ss3847708864	Apr 25, 2020 (154)
121	SGDP_PRJ	ss3855937956	Apr 25, 2020 (154)
122	KRGDB	ss3901806915	Apr 25, 2020 (154)
123	KOGIC	ss3951362602	Apr 25, 2020 (154)
124	EVA	ss3984508439	Apr 26, 2021 (155)
125	EVA	ss3984993932	Apr 26, 2021 (155)
126	EVA	ss4017083397	Apr 26, 2021 (155)
127	TOPMED	ss4566288018	Apr 26, 2021 (155)
128	TOMMO_GENOMICS	ss5159370827	Apr 26, 2021 (155)
129	1000G_HIGH_COVERAGE	ss5254246265	Oct 12, 2022 (156)
130	EVA	ss5314859465	Oct 12, 2022 (156)
131	EVA	ss5340105559	Oct 12, 2022 (156)
132	HUGCELL_USP	ss5453617816	Oct 12, 2022 (156)
133	1000G_HIGH_COVERAGE	ss5532693781	Oct 12, 2022 (156)
134	SANFORD_IMAGENETICS	ss5632216882	Oct 12, 2022 (156)
135	TOMMO_GENOMICS	ss5691099815	Oct 12, 2022 (156)
136	YY_MCH	ss5803776220	Oct 12, 2022 (156)
137	EVA	ss5825816717	Oct 12, 2022 (156)
138	EVA	ss5847967767	Oct 12, 2022 (156)
139	EVA	ss5853629571	Oct 12, 2022 (156)
140	EVA	ss5869018185	Oct 12, 2022 (156)
141	EVA	ss5960514682	Oct 12, 2022 (156)
142	1000Genomes	NC_000003.11 - 59899215	Oct 12, 2018 (152)
143	1000Genomes_30x	NC_000003.12 - 59913489	Oct 12, 2022 (156)
144	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 59899215	Oct 12, 2018 (152)
145	Genome-wide autozygosity in Daghestan	NC_000003.10 - 59874255	Apr 25, 2020 (154)
146	Genetic variation in the Estonian population	NC_000003.11 - 59899215	Oct 12, 2018 (152)
147	The Danish reference pan genome	NC_000003.11 - 59899215	Apr 25, 2020 (154)
148	gnomAD - Genomes	NC_000003.12 - 59913489	Apr 26, 2021 (155)
149	Genome of the Netherlands Release 5	NC_000003.11 - 59899215	Apr 25, 2020 (154)
150	HGDP-CEPH-db Supplement 1	NC_000003.10 - 59874255	Apr 25, 2020 (154)
151	HapMap	NC_000003.12 - 59913489	Apr 25, 2020 (154)
152	KOREAN population from KRGDB	NC_000003.11 - 59899215	Apr 25, 2020 (154)
153	Korean Genome Project	NC_000003.12 - 59913489	Apr 25, 2020 (154)
154	Northern Sweden	NC_000003.11 - 59899215	Jul 13, 2019 (153)
155	The PAGE Study	NC_000003.12 - 59913489	Jul 13, 2019 (153)
156	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000003.11 - 59899215	Apr 26, 2021 (155)
157	CNV burdens in cranial meningiomas	NC_000003.11 - 59899215	Apr 26, 2021 (155)
158	Qatari	NC_000003.11 - 59899215	Apr 25, 2020 (154)
159	SGDP_PRJ	NC_000003.11 - 59899215	Apr 25, 2020 (154)
160	Siberian	NC_000003.11 - 59899215	Apr 25, 2020 (154)
161	8.3KJPN	NC_000003.11 - 59899215	Apr 26, 2021 (155)
162	14KJPN	NC_000003.12 - 59913489	Oct 12, 2022 (156)
163	TopMed	NC_000003.12 - 59913489	Apr 26, 2021 (155)
164	UK 10K study - Twins	NC_000003.11 - 59899215	Oct 12, 2018 (152)
165	A Vietnamese Genetic Variation Database	NC_000003.11 - 59899215	Jul 13, 2019 (153)
166	ALFA	NC_000003.12 - 59913489	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).

Associated ID	History Updated (Build)
rs588600	Sep 19, 2000 (85)
rs56811734	May 23, 2008 (130)
rs386577600	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
8984309, ss3901806915	NC_000003.11:59899214:A:C	NC_000003.12:59913488:A:C	(self)
ss78255856, ss3639211447, ss3639623796	NC_000003.9:59874254:A:G	NC_000003.12:59913488:A:G	(self)
314968, 386756, ss92103754, ss110211654, ss111770799, ss117097895, ss163450220, ss202580385, ss206016155, ss253120611, ss277141515, ss284652978, ss292804283, ss480723859, ss825485148, ss1397338983, ss1588109725, ss1712579071, ss2136694955, ss2635119474, ss3643374549, ss3847708864	NC_000003.10:59874254:A:G	NC_000003.12:59913488:A:G	(self)
15378846, 8554989, 6049725, 6145262, 3751409, 8984309, 3208682, 219859, 57786, 3918778, 7954936, 2088720, 17340134, 8554989, 1857102, ss220160049, ss231837191, ss239247710, ss480739550, ss485156663, ss537151234, ss556642628, ss650321513, ss778885209, ss783024593, ss783984438, ss832282144, ss832936108, ss834346256, ss978637948, ss1070442055, ss1304184617, ss1429432307, ss1579980323, ss1607165660, ss1650159693, ss1752477906, ss1799339020, ss1921876848, ss1958569129, ss1969402335, ss2021497367, ss2149572366, ss2625247155, ss2633954906, ss2704948022, ss2793486721, ss2985259409, ss2985877922, ss2992387281, ss3022245574, ss3345038579, ss3625816856, ss3628671759, ss3631900658, ss3633293642, ss3634010740, ss3634898027, ss3635694653, ss3637447022, ss3638417773, ss3640605328, ss3644817999, ss3652721480, ss3654027864, ss3660311477, ss3729923817, ss3745198007, ss3760088325, ss3772693425, ss3784326178, ss3789839915, ss3794713896, ss3827831188, ss3837338640, ss3855937956, ss3901806915, ss3984508439, ss3984993932, ss4017083397, ss5159370827, ss5314859465, ss5340105559, ss5632216882, ss5825816717, ss5847967767, ss5960514682	NC_000003.11:59899214:A:G	NC_000003.12:59913488:A:G	(self)
20219716, 109168974, 2367734, 7740603, 257650, 24936919, 403665573, 1378032117, ss2251960138, ss3024511002, ss3647412221, ss3709320822, ss3726021093, ss3771036181, ss3803222579, ss3842764467, ss3951362602, ss4566288018, ss5254246265, ss5453617816, ss5532693781, ss5691099815, ss5803776220, ss5853629571, ss5869018185	NC_000003.12:59913488:A:G	NC_000003.12:59913488:A:G	(self)
ss10032373	NT_005999.15:8837010:A:G	NC_000003.12:59913488:A:G	(self)
ss17739011, ss21970285	NT_022517.16:59821549:A:G	NC_000003.12:59913488:A:G	(self)
ss380964, ss760305, ss919560, ss920709, ss2010958, ss2693177, ss23914940, ss44417535, ss66615488, ss67284474, ss67687069, ss70763006, ss71337150, ss75446911, ss76737969, ss79154630, ss83416812, ss99095967, ss103941277, ss122148090, ss135291286, ss138886575, ss154247593, ss159424474, ss171491946, ss173538013	NT_022517.18:59839214:A:G	NC_000003.12:59913488:A:G	(self)
8984309, ss3901806915	NC_000003.11:59899214:A:T	NC_000003.12:59913488:A:T	(self)

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

No publications for rs294457

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

rs294457