Name: rs9395066
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.

rs9395066

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:45127426 (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: C=0.408631 (132122/323328, ALFA)
C=0.397068 (105100/264690, TOPMED)
C=0.394856 (55242/139904, GnomAD) (+ 22 more)
C=0.42435 (33397/78702, PAGE_STUDY)
A=0.28756 (8126/28258, 14KJPN)
A=0.28747 (4818/16760, 8.3KJPN)
C=0.4630 (2965/6404, 1000G_30x)
C=0.4710 (2359/5008, 1000G)
C=0.4042 (1811/4480, Estonian)
C=0.3991 (1538/3854, ALSPAC)
C=0.3956 (1467/3708, TWINSUK)
A=0.3188 (934/2930, KOREAN)
C=0.4933 (1028/2084, HGDP_Stanford)
C=0.4428 (836/1888, HapMap)
A=0.3166 (580/1832, Korea1K)
C=0.4754 (540/1136, Daghestan)
C=0.401 (400/998, GoNL)
A=0.294 (232/788, PRJEB37584)
C=0.440 (264/600, NorthernSweden)
A=0.283 (117/414, SGDP_PRJ)
C=0.306 (66/216, Qatari)
A=0.264 (57/216, Vietnamese)
A=0.44 (24/54, Ancient Sardinia)
C=0.20 (8/40, GENOME_DK)
A=0.45 (18/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SUPT3H : Intron 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	323544	A=0.591376	C=0.408624, T=0.000000
European	Sub	281612	A=0.593806	C=0.406194, T=0.000000
African	Sub	10354	A=0.65868	C=0.34132, T=0.00000
African Others	Sub	384	A=0.654	C=0.346, T=0.000
African American	Sub	9970	A=0.6589	C=0.3411, T=0.0000
Asian	Sub	3922	A=0.2986	C=0.7014, T=0.0000
East Asian	Sub	3150	A=0.3016	C=0.6984, T=0.0000
Other Asian	Sub	772	A=0.286	C=0.714, T=0.000
Latin American 1	Sub	1134	A=0.5855	C=0.4145, T=0.0000
Latin American 2	Sub	7226	A=0.6370	C=0.3630, T=0.0000
South Asian	Sub	5226	A=0.5379	C=0.4621, T=0.0000
Other	Sub	14070	A=0.57171	C=0.42829, T=0.00000

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
Allele Frequency Aggregator	Total	Global	323328	A=0.591369	C=0.408631, T=0.000000
Allele Frequency Aggregator	European	Sub	281432	A=0.593810	C=0.406190, T=0.000000
Allele Frequency Aggregator	Other	Sub	14048	A=0.57168	C=0.42832, T=0.00000
Allele Frequency Aggregator	African	Sub	10340	A=0.65851	C=0.34149, T=0.00000
Allele Frequency Aggregator	Latin American 2	Sub	7226	A=0.6370	C=0.3630, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5226	A=0.5379	C=0.4621, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3922	A=0.2986	C=0.7014, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1134	A=0.5855	C=0.4145, T=0.0000
TopMed	Global	Study-wide	264690	A=0.602932	C=0.397068
gnomAD - Genomes	Global	Study-wide	139904	A=0.605144	C=0.394856
gnomAD - Genomes	European	Sub	75794	A=0.58982	C=0.41018
gnomAD - Genomes	African	Sub	41876	A=0.65462	C=0.34538
gnomAD - Genomes	American	Sub	13640	A=0.62698	C=0.37302
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.5356	C=0.4644
gnomAD - Genomes	East Asian	Sub	3126	A=0.2927	C=0.7073
gnomAD - Genomes	Other	Sub	2150	A=0.6047	C=0.3953
The PAGE Study	Global	Study-wide	78702	A=0.57565	C=0.42435
The PAGE Study	AfricanAmerican	Sub	32516	A=0.64734	C=0.35266
The PAGE Study	Mexican	Sub	10810	A=0.65254	C=0.34746
The PAGE Study	Asian	Sub	8318	A=0.2991	C=0.7009
The PAGE Study	PuertoRican	Sub	7918	A=0.5983	C=0.4017
The PAGE Study	NativeHawaiian	Sub	4534	A=0.2649	C=0.7351
The PAGE Study	Cuban	Sub	4230	A=0.5898	C=0.4102
The PAGE Study	Dominican	Sub	3828	A=0.6178	C=0.3822
The PAGE Study	CentralAmerican	Sub	2450	A=0.6404	C=0.3596
The PAGE Study	SouthAmerican	Sub	1982	A=0.5827	C=0.4173
The PAGE Study	NativeAmerican	Sub	1260	A=0.6095	C=0.3905
The PAGE Study	SouthAsian	Sub	856	A=0.495	C=0.505
14KJPN	JAPANESE	Study-wide	28258	A=0.28756	C=0.71244
8.3KJPN	JAPANESE	Study-wide	16760	A=0.28747	C=0.71253
1000Genomes_30x	Global	Study-wide	6404	A=0.5370	C=0.4630
1000Genomes_30x	African	Sub	1786	A=0.6747	C=0.3253
1000Genomes_30x	Europe	Sub	1266	A=0.6114	C=0.3886
1000Genomes_30x	South Asian	Sub	1202	A=0.4692	C=0.5308
1000Genomes_30x	East Asian	Sub	1170	A=0.2829	C=0.7171
1000Genomes_30x	American	Sub	980	A=0.577	C=0.423
1000Genomes	Global	Study-wide	5008	A=0.5290	C=0.4710
1000Genomes	African	Sub	1322	A=0.6732	C=0.3268
1000Genomes	East Asian	Sub	1008	A=0.2748	C=0.7252
1000Genomes	Europe	Sub	1006	A=0.6163	C=0.3837
1000Genomes	South Asian	Sub	978	A=0.472	C=0.528
1000Genomes	American	Sub	694	A=0.576	C=0.424
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5958	C=0.4042
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6009	C=0.3991
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6044	C=0.3956
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3188	C=0.6812, G=0.0000, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.5067	C=0.4933
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.300	C=0.700
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.524	C=0.476
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.600	C=0.400
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.625	C=0.375
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.723	C=0.277
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.481	C=0.519
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.12	C=0.88
HapMap	Global	Study-wide	1888	A=0.5572	C=0.4428
HapMap	American	Sub	768	A=0.507	C=0.493
HapMap	African	Sub	690	A=0.713	C=0.287
HapMap	Asian	Sub	254	A=0.276	C=0.724
HapMap	Europe	Sub	176	A=0.574	C=0.426
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3166	C=0.6834
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.5246	C=0.4754
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.549	C=0.451
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.493	C=0.507
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.492	C=0.508
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.500	C=0.500
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.43	C=0.57
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.67	C=0.33
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.599	C=0.401
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.294	C=0.706
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.294	C=0.706
Northern Sweden	ACPOP	Study-wide	600	A=0.560	C=0.440
SGDP_PRJ	Global	Study-wide	414	A=0.283	C=0.717
Qatari	Global	Study-wide	216	A=0.694	C=0.306
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.264	C=0.736
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	A=0.44	C=0.56
The Danish reference pan genome	Danish	Study-wide	40	A=0.80	C=0.20
Siberian	Global	Study-wide	40	A=0.45	C=0.55

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 6	NC_000006.12:g.45127426A>C
GRCh38.p14 chr 6	NC_000006.12:g.45127426A>G
GRCh38.p14 chr 6	NC_000006.12:g.45127426A>T
GRCh37.p13 chr 6	NC_000006.11:g.45095163A>C
GRCh37.p13 chr 6	NC_000006.11:g.45095163A>G
GRCh37.p13 chr 6	NC_000006.11:g.45095163A>T

Gene: SUPT3H, SPT3 homolog, SAGA and STAGA complex component (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SUPT3H transcript variant 3	NM_001261823.2:c.-264-214… NM_001261823.2:c.-264-21420T>G	N/A	Intron Variant
SUPT3H transcript variant 4	NM_001350324.2:c.102-2142… NM_001350324.2:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant 5	NM_001350325.2:c.102-2142… NM_001350325.2:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant 6	NM_001350326.2:c.39-21420… NM_001350326.2:c.39-21420T>G	N/A	Intron Variant
SUPT3H transcript variant 7	NM_001350327.2:c.-72-1067… NM_001350327.2:c.-72-106794T>G	N/A	Intron Variant
SUPT3H transcript variant 8	NM_001350329.2:c.102-2142… NM_001350329.2:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant 1	NM_003599.4:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant 2	NM_181356.3:c.135-21420T>G	N/A	Intron Variant
SUPT3H transcript variant 9	NR_146632.2:n.	N/A	Intron Variant
SUPT3H transcript variant 10	NR_146633.1:n.	N/A	Intron Variant
SUPT3H transcript variant 11	NR_146634.2:n.	N/A	Intron Variant
SUPT3H transcript variant 12	NR_146635.2:n.	N/A	Intron Variant
SUPT3H transcript variant X2	XM_011514949.4:c.135-2142… XM_011514949.4:c.135-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X3	XM_011514952.3:c.102-2142… XM_011514952.3:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X4	XM_011514953.4:c.102-2142… XM_011514953.4:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X5	XM_011514954.4:c.102-2142… XM_011514954.4:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X17	XM_017011370.2:c.135-2142… XM_017011370.2:c.135-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X10	XM_017011371.2:c.102-2142… XM_017011371.2:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X7	XM_024446572.2:c.102-2142… XM_024446572.2:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X8	XM_047419416.1:c.102-2142… XM_047419416.1:c.102-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X11	XM_047419417.1:c.135-2142… XM_047419417.1:c.135-21420T>G	N/A	Intron Variant
SUPT3H transcript variant X14	XM_017011374.3:c.	N/A	Genic Upstream Transcript Variant
SUPT3H transcript variant X15	XR_001743692.2:n.	N/A	Intron Variant
SUPT3H transcript variant X9	XR_007059345.1:n.	N/A	Intron Variant
SUPT3H transcript variant X13	XR_007059346.1:n.	N/A	Intron Variant
SUPT3H transcript variant X16	XR_007059347.1:n.	N/A	Intron Variant
SUPT3H transcript variant X1	XR_926319.4:n.	N/A	Intron Variant
SUPT3H transcript variant X6	XR_926320.1:n.	N/A	Intron Variant
SUPT3H transcript variant X12	XR_926321.1:n.	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	A=	C	G	T
GRCh38.p14 chr 6	NC_000006.12:g.45127426=	NC_000006.12:g.45127426A>C	NC_000006.12:g.45127426A>G	NC_000006.12:g.45127426A>T
GRCh37.p13 chr 6	NC_000006.11:g.45095163=	NC_000006.11:g.45095163A>C	NC_000006.11:g.45095163A>G	NC_000006.11:g.45095163A>T
SUPT3H transcript variant 3	NM_001261823.1:c.-264-21420=	NM_001261823.1:c.-264-21420T>G	NM_001261823.1:c.-264-21420T>C	NM_001261823.1:c.-264-21420T>A
SUPT3H transcript variant 3	NM_001261823.2:c.-264-21420=	NM_001261823.2:c.-264-21420T>G	NM_001261823.2:c.-264-21420T>C	NM_001261823.2:c.-264-21420T>A
SUPT3H transcript variant 4	NM_001350324.2:c.102-21420=	NM_001350324.2:c.102-21420T>G	NM_001350324.2:c.102-21420T>C	NM_001350324.2:c.102-21420T>A
SUPT3H transcript variant 5	NM_001350325.2:c.102-21420=	NM_001350325.2:c.102-21420T>G	NM_001350325.2:c.102-21420T>C	NM_001350325.2:c.102-21420T>A
SUPT3H transcript variant 6	NM_001350326.2:c.39-21420=	NM_001350326.2:c.39-21420T>G	NM_001350326.2:c.39-21420T>C	NM_001350326.2:c.39-21420T>A
SUPT3H transcript variant 7	NM_001350327.2:c.-72-106794=	NM_001350327.2:c.-72-106794T>G	NM_001350327.2:c.-72-106794T>C	NM_001350327.2:c.-72-106794T>A
SUPT3H transcript variant 8	NM_001350329.2:c.102-21420=	NM_001350329.2:c.102-21420T>G	NM_001350329.2:c.102-21420T>C	NM_001350329.2:c.102-21420T>A
SUPT3H transcript variant 1	NM_003599.3:c.102-21420=	NM_003599.3:c.102-21420T>G	NM_003599.3:c.102-21420T>C	NM_003599.3:c.102-21420T>A
SUPT3H transcript variant 1	NM_003599.4:c.102-21420=	NM_003599.4:c.102-21420T>G	NM_003599.4:c.102-21420T>C	NM_003599.4:c.102-21420T>A
SUPT3H transcript variant 2	NM_181356.2:c.135-21420=	NM_181356.2:c.135-21420T>G	NM_181356.2:c.135-21420T>C	NM_181356.2:c.135-21420T>A
SUPT3H transcript variant 2	NM_181356.3:c.135-21420=	NM_181356.3:c.135-21420T>G	NM_181356.3:c.135-21420T>C	NM_181356.3:c.135-21420T>A
SUPT3H transcript variant X1	XM_005249450.1:c.102-21420=	XM_005249450.1:c.102-21420T>G	XM_005249450.1:c.102-21420T>C	XM_005249450.1:c.102-21420T>A
SUPT3H transcript variant X2	XM_005249451.1:c.102-21420=	XM_005249451.1:c.102-21420T>G	XM_005249451.1:c.102-21420T>C	XM_005249451.1:c.102-21420T>A
SUPT3H transcript variant X3	XM_005249452.1:c.102-21420=	XM_005249452.1:c.102-21420T>G	XM_005249452.1:c.102-21420T>C	XM_005249452.1:c.102-21420T>A
SUPT3H transcript variant X2	XM_011514949.4:c.135-21420=	XM_011514949.4:c.135-21420T>G	XM_011514949.4:c.135-21420T>C	XM_011514949.4:c.135-21420T>A
SUPT3H transcript variant X3	XM_011514952.3:c.102-21420=	XM_011514952.3:c.102-21420T>G	XM_011514952.3:c.102-21420T>C	XM_011514952.3:c.102-21420T>A
SUPT3H transcript variant X4	XM_011514953.4:c.102-21420=	XM_011514953.4:c.102-21420T>G	XM_011514953.4:c.102-21420T>C	XM_011514953.4:c.102-21420T>A
SUPT3H transcript variant X5	XM_011514954.4:c.102-21420=	XM_011514954.4:c.102-21420T>G	XM_011514954.4:c.102-21420T>C	XM_011514954.4:c.102-21420T>A
SUPT3H transcript variant X17	XM_017011370.2:c.135-21420=	XM_017011370.2:c.135-21420T>G	XM_017011370.2:c.135-21420T>C	XM_017011370.2:c.135-21420T>A
SUPT3H transcript variant X10	XM_017011371.2:c.102-21420=	XM_017011371.2:c.102-21420T>G	XM_017011371.2:c.102-21420T>C	XM_017011371.2:c.102-21420T>A
SUPT3H transcript variant X7	XM_024446572.2:c.102-21420=	XM_024446572.2:c.102-21420T>G	XM_024446572.2:c.102-21420T>C	XM_024446572.2:c.102-21420T>A
SUPT3H transcript variant X8	XM_047419416.1:c.102-21420=	XM_047419416.1:c.102-21420T>G	XM_047419416.1:c.102-21420T>C	XM_047419416.1:c.102-21420T>A
SUPT3H transcript variant X11	XM_047419417.1:c.135-21420=	XM_047419417.1:c.135-21420T>G	XM_047419417.1:c.135-21420T>C	XM_047419417.1:c.135-21420T>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#.

144 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss12897766	Dec 05, 2003 (119)
2	CSHL-HAPMAP	ss17113695	Feb 27, 2004 (120)
3	SSAHASNP	ss22459010	Apr 05, 2004 (121)
4	ABI	ss44705488	Mar 14, 2006 (126)
5	ILLUMINA	ss66567982	Nov 29, 2006 (127)
6	ILLUMINA	ss67914267	Nov 29, 2006 (127)
7	ILLUMINA	ss68040784	Nov 29, 2006 (127)
8	ILLUMINA	ss71605454	May 16, 2007 (127)
9	ILLUMINA	ss75485289	Dec 06, 2007 (129)
10	ILLUMINA	ss79295512	Dec 14, 2007 (130)
11	KRIBB_YJKIM	ss84815627	Dec 14, 2007 (130)
12	BCMHGSC_JDW	ss93452546	Mar 24, 2008 (129)
13	ILLUMINA	ss98255796	May 24, 2008 (130)
14	HUMANGENOME_JCVI	ss98389848	Feb 04, 2009 (130)
15	BGI	ss104308274	Dec 01, 2009 (131)
16	1000GENOMES	ss110045721	Jan 24, 2009 (130)
17	1000GENOMES	ss114301763	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss116447297	Dec 01, 2009 (131)
19	ILLUMINA	ss122986709	Dec 01, 2009 (131)
20	ENSEMBL	ss143879114	Dec 01, 2009 (131)
21	ENSEMBL	ss143965223	Dec 01, 2009 (131)
22	ILLUMINA	ss154492091	Dec 01, 2009 (131)
23	GMI	ss156878089	Dec 01, 2009 (131)
24	ILLUMINA	ss159666092	Dec 01, 2009 (131)
25	ILLUMINA	ss160984439	Dec 01, 2009 (131)
26	COMPLETE_GENOMICS	ss163464068	Jul 04, 2010 (132)
27	ILLUMINA	ss172460172	Jul 04, 2010 (132)
28	ILLUMINA	ss174835370	Jul 04, 2010 (132)
29	BUSHMAN	ss201766863	Jul 04, 2010 (132)
30	BCM-HGSC-SUB	ss207322999	Jul 04, 2010 (132)
31	1000GENOMES	ss222369169	Jul 14, 2010 (132)
32	1000GENOMES	ss233454843	Jul 14, 2010 (132)
33	1000GENOMES	ss240515351	Jul 15, 2010 (132)
34	GMI	ss278778924	May 04, 2012 (137)
35	PJP	ss293589430	May 09, 2011 (134)
36	ILLUMINA	ss481890446	May 04, 2012 (137)
37	ILLUMINA	ss481923531	May 04, 2012 (137)
38	ILLUMINA	ss482881831	Sep 08, 2015 (146)
39	ILLUMINA	ss485739343	May 04, 2012 (137)
40	EXOME_CHIP	ss491386641	May 04, 2012 (137)
41	ILLUMINA	ss537595171	Sep 08, 2015 (146)
42	TISHKOFF	ss559179542	Apr 25, 2013 (138)
43	SSMP	ss653119397	Apr 25, 2013 (138)
44	ILLUMINA	ss778716305	Aug 21, 2014 (142)
45	ILLUMINA	ss780687434	Aug 21, 2014 (142)
46	ILLUMINA	ss783315425	Aug 21, 2014 (142)
47	ILLUMINA	ss783360988	Aug 21, 2014 (142)
48	ILLUMINA	ss784267460	Aug 21, 2014 (142)
49	ILLUMINA	ss825626030	Apr 01, 2015 (144)
50	ILLUMINA	ss832576937	Apr 01, 2015 (144)
51	ILLUMINA	ss833176842	Aug 21, 2014 (142)
52	ILLUMINA	ss833767670	Aug 21, 2014 (142)
53	ILLUMINA	ss834175598	Aug 21, 2014 (142)
54	EVA-GONL	ss982886569	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1073582303	Aug 21, 2014 (142)
56	1000GENOMES	ss1319956920	Aug 21, 2014 (142)
57	HAMMER_LAB	ss1397455232	Sep 08, 2015 (146)
58	DDI	ss1430708625	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1581655183	Apr 01, 2015 (144)
60	EVA_DECODE	ss1592422709	Apr 01, 2015 (144)
61	EVA_UK10K_ALSPAC	ss1615489148	Apr 01, 2015 (144)
62	EVA_UK10K_TWINSUK	ss1658483181	Apr 01, 2015 (144)
63	EVA_SVP	ss1712860544	Apr 01, 2015 (144)
64	ILLUMINA	ss1752638798	Sep 08, 2015 (146)
65	ILLUMINA	ss1752638799	Sep 08, 2015 (146)
66	HAMMER_LAB	ss1804409800	Sep 08, 2015 (146)
67	ILLUMINA	ss1917806140	Feb 12, 2016 (147)
68	WEILL_CORNELL_DGM	ss1926142957	Feb 12, 2016 (147)
69	ILLUMINA	ss1946179002	Feb 12, 2016 (147)
70	ILLUMINA	ss1958907489	Feb 12, 2016 (147)
71	GENOMED	ss1970386857	Jul 19, 2016 (147)
72	JJLAB	ss2023711227	Sep 14, 2016 (149)
73	USC_VALOUEV	ss2151889994	Dec 20, 2016 (150)
74	HUMAN_LONGEVITY	ss2283725231	Dec 20, 2016 (150)
75	SYSTEMSBIOZJU	ss2626342587	Nov 08, 2017 (151)
76	ILLUMINA	ss2634448707	Nov 08, 2017 (151)
77	ILLUMINA	ss2635157087	Nov 08, 2017 (151)
78	GRF	ss2707488904	Nov 08, 2017 (151)
79	GNOMAD	ss2838512070	Nov 08, 2017 (151)
80	AFFY	ss2985369134	Nov 08, 2017 (151)
81	SWEGEN	ss2998995943	Nov 08, 2017 (151)
82	ILLUMINA	ss3022618879	Nov 08, 2017 (151)
83	BIOINF_KMB_FNS_UNIBA	ss3025646639	Nov 08, 2017 (151)
84	CSHL	ss3346942807	Nov 08, 2017 (151)
85	ILLUMINA	ss3629540394	Oct 12, 2018 (152)
86	ILLUMINA	ss3629540395	Oct 12, 2018 (152)
87	ILLUMINA	ss3632365536	Oct 12, 2018 (152)
88	ILLUMINA	ss3633420964	Oct 12, 2018 (152)
89	ILLUMINA	ss3634143855	Oct 12, 2018 (152)
90	ILLUMINA	ss3635066646	Oct 12, 2018 (152)
91	ILLUMINA	ss3635066647	Oct 12, 2018 (152)
92	ILLUMINA	ss3635824700	Oct 12, 2018 (152)
93	ILLUMINA	ss3636789387	Oct 12, 2018 (152)
94	ILLUMINA	ss3637577516	Oct 12, 2018 (152)
95	ILLUMINA	ss3638628798	Oct 12, 2018 (152)
96	ILLUMINA	ss3639314855	Oct 12, 2018 (152)
97	ILLUMINA	ss3639683220	Oct 12, 2018 (152)
98	ILLUMINA	ss3640773945	Oct 12, 2018 (152)
99	ILLUMINA	ss3640773946	Oct 12, 2018 (152)
100	ILLUMINA	ss3643569957	Oct 12, 2018 (152)
101	ILLUMINA	ss3644912055	Oct 12, 2018 (152)
102	URBANLAB	ss3648342043	Oct 12, 2018 (152)
103	ILLUMINA	ss3653135605	Oct 12, 2018 (152)
104	ILLUMINA	ss3654134518	Oct 12, 2018 (152)
105	EGCUT_WGS	ss3666887839	Jul 13, 2019 (153)
106	EVA_DECODE	ss3717127521	Jul 13, 2019 (153)
107	ILLUMINA	ss3726345016	Jul 13, 2019 (153)
108	ACPOP	ss3733467601	Jul 13, 2019 (153)
109	ILLUMINA	ss3744554794	Jul 13, 2019 (153)
110	ILLUMINA	ss3745366580	Jul 13, 2019 (153)
111	ILLUMINA	ss3745366581	Jul 13, 2019 (153)
112	EVA	ss3764970255	Jul 13, 2019 (153)
113	PAGE_CC	ss3771292235	Jul 13, 2019 (153)
114	ILLUMINA	ss3772860138	Jul 13, 2019 (153)
115	ILLUMINA	ss3772860139	Jul 13, 2019 (153)
116	PACBIO	ss3785462317	Jul 13, 2019 (153)
117	PACBIO	ss3790814964	Jul 13, 2019 (153)
118	PACBIO	ss3795693621	Jul 13, 2019 (153)
119	KHV_HUMAN_GENOMES	ss3808116770	Jul 13, 2019 (153)
120	EVA	ss3829902009	Apr 26, 2020 (154)
121	HGDP	ss3847833047	Apr 26, 2020 (154)
122	SGDP_PRJ	ss3864492676	Apr 26, 2020 (154)
123	KRGDB	ss3911299928	Apr 26, 2020 (154)
124	KOGIC	ss3958952582	Apr 26, 2020 (154)
125	EVA	ss3984568809	Apr 26, 2021 (155)
126	EVA	ss3985221617	Apr 26, 2021 (155)
127	EVA	ss4017273774	Apr 26, 2021 (155)
128	TOPMED	ss4701481338	Apr 26, 2021 (155)
129	TOMMO_GENOMICS	ss5177313665	Apr 26, 2021 (155)
130	1000G_HIGH_COVERAGE	ss5268294900	Oct 17, 2022 (156)
131	EVA	ss5315154483	Oct 17, 2022 (156)
132	EVA	ss5365348897	Oct 17, 2022 (156)
133	HUGCELL_USP	ss5465982580	Oct 17, 2022 (156)
134	EVA	ss5508474129	Oct 17, 2022 (156)
135	1000G_HIGH_COVERAGE	ss5554112528	Oct 17, 2022 (156)
136	SANFORD_IMAGENETICS	ss5624629079	Oct 17, 2022 (156)
137	SANFORD_IMAGENETICS	ss5640314870	Oct 17, 2022 (156)
138	TOMMO_GENOMICS	ss5715306029	Oct 17, 2022 (156)
139	EVA	ss5799688281	Oct 17, 2022 (156)
140	YY_MCH	ss5807430990	Oct 17, 2022 (156)
141	EVA	ss5842184304	Oct 17, 2022 (156)
142	EVA	ss5855340659	Oct 17, 2022 (156)
143	EVA	ss5883642903	Oct 17, 2022 (156)
144	EVA	ss5968812039	Oct 17, 2022 (156)
145	1000Genomes	NC_000006.11 - 45095163	Oct 12, 2018 (152)
146	1000Genomes_30x	NC_000006.12 - 45127426	Oct 17, 2022 (156)
147	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 45095163	Oct 12, 2018 (152)
148	Genome-wide autozygosity in Daghestan	NC_000006.10 - 45203141	Apr 26, 2020 (154)
149	Genetic variation in the Estonian population	NC_000006.11 - 45095163	Oct 12, 2018 (152)
150	The Danish reference pan genome	NC_000006.11 - 45095163	Apr 26, 2020 (154)
151	gnomAD - Genomes	NC_000006.12 - 45127426	Apr 26, 2021 (155)
152	Genome of the Netherlands Release 5	NC_000006.11 - 45095163	Apr 26, 2020 (154)
153	HGDP-CEPH-db Supplement 1	NC_000006.10 - 45203141	Apr 26, 2020 (154)
154	HapMap	NC_000006.12 - 45127426	Apr 26, 2020 (154)
155	KOREAN population from KRGDB	NC_000006.11 - 45095163	Apr 26, 2020 (154)
156	Korean Genome Project	NC_000006.12 - 45127426	Apr 26, 2020 (154)
157	Northern Sweden	NC_000006.11 - 45095163	Jul 13, 2019 (153)
158	The PAGE Study	NC_000006.12 - 45127426	Jul 13, 2019 (153)
159	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000006.11 - 45095163	Apr 26, 2021 (155)
160	CNV burdens in cranial meningiomas	NC_000006.11 - 45095163	Apr 26, 2021 (155)
161	Qatari	NC_000006.11 - 45095163	Apr 26, 2020 (154)
162	SGDP_PRJ	NC_000006.11 - 45095163	Apr 26, 2020 (154)
163	Siberian	NC_000006.11 - 45095163	Apr 26, 2020 (154)
164	8.3KJPN	NC_000006.11 - 45095163	Apr 26, 2021 (155)
165	14KJPN	NC_000006.12 - 45127426	Oct 17, 2022 (156)
166	TopMed	NC_000006.12 - 45127426	Apr 26, 2021 (155)
167	UK 10K study - Twins	NC_000006.11 - 45095163	Oct 12, 2018 (152)
168	A Vietnamese Genetic Variation Database	NC_000006.11 - 45095163	Jul 13, 2019 (153)
169	ALFA	NC_000006.12 - 45127426	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)
rs57664694	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639314855, ss3639683220	NC_000006.9:45203140:A:C	NC_000006.12:45127425:A:C	(self)
429860, 510939, ss93452546, ss110045721, ss114301763, ss116447297, ss160984439, ss163464068, ss201766863, ss207322999, ss278778924, ss293589430, ss481890446, ss825626030, ss1397455232, ss1592422709, ss1712860544, ss2635157087, ss3643569957, ss3847833047	NC_000006.10:45203140:A:C	NC_000006.12:45127425:A:C	(self)
31739587, 17701337, 12626087, 7820122, 7877137, 18477322, 6752466, 447544, 118217, 8184887, 16509656, 4406348, 35282972, 17701337, 3928925, ss222369169, ss233454843, ss240515351, ss481923531, ss482881831, ss485739343, ss491386641, ss537595171, ss559179542, ss653119397, ss778716305, ss780687434, ss783315425, ss783360988, ss784267460, ss832576937, ss833176842, ss833767670, ss834175598, ss982886569, ss1073582303, ss1319956920, ss1430708625, ss1581655183, ss1615489148, ss1658483181, ss1752638798, ss1752638799, ss1804409800, ss1917806140, ss1926142957, ss1946179002, ss1958907489, ss1970386857, ss2023711227, ss2151889994, ss2626342587, ss2634448707, ss2707488904, ss2838512070, ss2985369134, ss2998995943, ss3022618879, ss3346942807, ss3629540394, ss3629540395, ss3632365536, ss3633420964, ss3634143855, ss3635066646, ss3635066647, ss3635824700, ss3636789387, ss3637577516, ss3638628798, ss3640773945, ss3640773946, ss3644912055, ss3653135605, ss3654134518, ss3666887839, ss3733467601, ss3744554794, ss3745366580, ss3745366581, ss3764970255, ss3772860138, ss3772860139, ss3785462317, ss3790814964, ss3795693621, ss3829902009, ss3864492676, ss3911299928, ss3984568809, ss3985221617, ss4017273774, ss5177313665, ss5315154483, ss5365348897, ss5508474129, ss5624629079, ss5640314870, ss5799688281, ss5842184304, ss5968812039	NC_000006.11:45095162:A:C	NC_000006.12:45127425:A:C	(self)
41638463, 223941509, 3122849, 15330583, 513704, 49143133, 538858896, 2163616, ss2283725231, ss3025646639, ss3648342043, ss3717127521, ss3726345016, ss3771292235, ss3808116770, ss3958952582, ss4701481338, ss5268294900, ss5465982580, ss5554112528, ss5715306029, ss5807430990, ss5855340659, ss5883642903	NC_000006.12:45127425:A:C	NC_000006.12:45127425:A:C	(self)
ss12897766, ss17113695, ss22459010	NT_007592.13:35892289:A:C	NC_000006.12:45127425:A:C	(self)
ss44705488, ss66567982, ss67914267, ss68040784, ss71605454, ss75485289, ss79295512, ss84815627, ss98255796, ss98389848, ss104308274, ss122986709, ss143879114, ss143965223, ss154492091, ss156878089, ss159666092, ss172460172, ss174835370	NT_007592.15:45035162:A:C	NC_000006.12:45127425:A:C	(self)
18477322, ss3911299928	NC_000006.11:45095162:A:G	NC_000006.12:45127425:A:G	(self)
18477322, ss3911299928	NC_000006.11:45095162:A:T	NC_000006.12:45127425:A:T	(self)
2163616	NC_000006.12:45127425:A:T	NC_000006.12:45127425: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 rs9395066

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

rs9395066