Name: rs6570000
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.

rs6570000

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:135306536 (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=0.040689 (10770/264690, TOPMED)
A=0.043528 (6103/140208, GnomAD)
A=0.05563 (1723/30974, ALFA) (+ 18 more)
A=0.00000 (0/28258, 14KJPN)
A=0.00000 (0/16760, 8.3KJPN)
A=0.0206 (132/6404, 1000G_30x)
A=0.0202 (101/5008, 1000G)
A=0.0540 (242/4480, Estonian)
A=0.0631 (243/3854, ALSPAC)
A=0.0615 (228/3708, TWINSUK)
A=0.0007 (2/2930, KOREAN)
A=0.0000 (0/1832, Korea1K)
A=0.0678 (77/1136, Daghestan)
A=0.064 (64/998, GoNL)
A=0.095 (57/600, NorthernSweden)
A=0.018 (10/556, SGDP_PRJ)
A=0.009 (3/328, HapMap)
A=0.051 (11/216, Qatari)
A=0.000 (0/212, Vietnamese)
A=0.02 (1/56, Siberian)
A=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AHI1 : Intron Variant
Publications: 1 citation
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	30974	A=0.05563	G=0.94437
European	Sub	24822	A=0.06172	G=0.93828
African	Sub	3172	A=0.0117	G=0.9883
African Others	Sub	124	A=0.008	G=0.992
African American	Sub	3048	A=0.0118	G=0.9882
Asian	Sub	130	A=0.000	G=1.000
East Asian	Sub	102	A=0.000	G=1.000
Other Asian	Sub	28	A=0.00	G=1.00
Latin American 1	Sub	168	A=0.065	G=0.935
Latin American 2	Sub	700	A=0.040	G=0.960
South Asian	Sub	116	A=0.043	G=0.957
Other	Sub	1866	A=0.0589	G=0.9411

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=0.040689	G=0.959311
gnomAD - Genomes	Global	Study-wide	140208	A=0.043528	G=0.956472
gnomAD - Genomes	European	Sub	75924	A=0.06268	G=0.93732
gnomAD - Genomes	African	Sub	42022	A=0.01099	G=0.98901
gnomAD - Genomes	American	Sub	13652	A=0.03611	G=0.96389
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.0878	G=0.9122
gnomAD - Genomes	East Asian	Sub	3132	A=0.0000	G=1.0000
gnomAD - Genomes	Other	Sub	2154	A=0.0450	G=0.9550
Allele Frequency Aggregator	Total	Global	30974	A=0.05563	G=0.94437
Allele Frequency Aggregator	European	Sub	24822	A=0.06172	G=0.93828
Allele Frequency Aggregator	African	Sub	3172	A=0.0117	G=0.9883
Allele Frequency Aggregator	Other	Sub	1866	A=0.0589	G=0.9411
Allele Frequency Aggregator	Latin American 2	Sub	700	A=0.040	G=0.960
Allele Frequency Aggregator	Latin American 1	Sub	168	A=0.065	G=0.935
Allele Frequency Aggregator	Asian	Sub	130	A=0.000	G=1.000
Allele Frequency Aggregator	South Asian	Sub	116	A=0.043	G=0.957
14KJPN	JAPANESE	Study-wide	28258	A=0.00000	G=1.00000
8.3KJPN	JAPANESE	Study-wide	16760	A=0.00000	G=1.00000
1000Genomes_30x	Global	Study-wide	6404	A=0.0206	G=0.9794
1000Genomes_30x	African	Sub	1786	A=0.0039	G=0.9961
1000Genomes_30x	Europe	Sub	1266	A=0.0537	G=0.9463
1000Genomes_30x	South Asian	Sub	1202	A=0.0183	G=0.9817
1000Genomes_30x	East Asian	Sub	1170	A=0.0009	G=0.9991
1000Genomes_30x	American	Sub	980	A=0.035	G=0.965
1000Genomes	Global	Study-wide	5008	A=0.0202	G=0.9798
1000Genomes	African	Sub	1322	A=0.0045	G=0.9955
1000Genomes	East Asian	Sub	1008	A=0.0010	G=0.9990
1000Genomes	Europe	Sub	1006	A=0.0537	G=0.9463
1000Genomes	South Asian	Sub	978	A=0.016	G=0.984
1000Genomes	American	Sub	694	A=0.035	G=0.965
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.0540	G=0.9460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.0631	G=0.9369
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.0615	G=0.9385
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0007	C=0.0000, G=0.9993, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0000	G=1.0000
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	A=0.0678	G=0.9322
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	A=0.081	G=0.919
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.069	G=0.931
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.041	G=0.959
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.074	G=0.926
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.00	G=1.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.08	G=0.92
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.064	G=0.936
Northern Sweden	ACPOP	Study-wide	600	A=0.095	G=0.905
SGDP_PRJ	Global	Study-wide	556	A=0.018	G=0.982
HapMap	Global	Study-wide	328	A=0.009	G=0.991
HapMap	American	Sub	120	A=0.025	G=0.975
HapMap	African	Sub	118	A=0.000	G=1.000
HapMap	Asian	Sub	90	A=0.00	G=1.00
Qatari	Global	Study-wide	216	A=0.051	G=0.949
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.000	G=1.000
Siberian	Global	Study-wide	56	A=0.02	G=0.98
The Danish reference pan genome	Danish	Study-wide	40	A=0.07	G=0.93

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.135306536A>C
GRCh38.p14 chr 6	NC_000006.12:g.135306536A>G
GRCh38.p14 chr 6	NC_000006.12:g.135306536A>T
GRCh37.p13 chr 6	NC_000006.11:g.135627674A>C
GRCh37.p13 chr 6	NC_000006.11:g.135627674A>G
GRCh37.p13 chr 6	NC_000006.11:g.135627674A>T
AHI1 RefSeqGene	NG_008643.2:g.196230T>G
AHI1 RefSeqGene	NG_008643.2:g.196230T>C
AHI1 RefSeqGene	NG_008643.2:g.196230T>A

Gene: AHI1, Abelson helper integration site 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AHI1 transcript variant 3	NM_001134830.2:c.3427-597… NM_001134830.2:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant 1	NM_001134831.2:c.3427-597… NM_001134831.2:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant 5	NM_001350503.2:c.3427-597… NM_001350503.2:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant 6	NM_001350504.2:c.3427-597… NM_001350504.2:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant 2	NM_017651.5:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant 4	NM_001134832.2:c.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X1	XM_011535910.4:c.3427-597… XM_011535910.4:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant X2	XM_011535911.4:c.3427-597… XM_011535911.4:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant X5	XM_047418939.1:c.3427-597… XM_047418939.1:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant X6	XM_047418940.1:c.3427-597… XM_047418940.1:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant X7	XM_047418941.1:c.3427-597… XM_047418941.1:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant X8	XM_047418942.1:c.3427-597… XM_047418942.1:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant X9	XM_047418943.1:c.3427-597… XM_047418943.1:c.3427-5978T>G	N/A	Intron Variant
AHI1 transcript variant X4	XM_017010979.3:c.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X14	XM_017010984.3:c.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X12	XM_024446480.2:c.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X13	XM_047418944.1:c.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X15	XM_047418945.1:c.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X16	XM_047418946.1:c.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X3	XR_001743480.3:n.	N/A	Intron Variant
AHI1 transcript variant X10	XR_007059276.1:n.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X11	XR_007059277.1:n.	N/A	Genic Downstream Transcript Variant
AHI1 transcript variant X17	XR_007059278.1:n.	N/A	Genic Downstream Transcript Variant

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

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.135306536=	NC_000006.12:g.135306536A>C	NC_000006.12:g.135306536A>G	NC_000006.12:g.135306536A>T
GRCh37.p13 chr 6	NC_000006.11:g.135627674=	NC_000006.11:g.135627674A>C	NC_000006.11:g.135627674A>G	NC_000006.11:g.135627674A>T
AHI1 RefSeqGene	NG_008643.2:g.196230=	NG_008643.2:g.196230T>G	NG_008643.2:g.196230T>C	NG_008643.2:g.196230T>A
AHI1 transcript variant 3	NM_001134830.1:c.3427-5978=	NM_001134830.1:c.3427-5978T>G	NM_001134830.1:c.3427-5978T>C	NM_001134830.1:c.3427-5978T>A
AHI1 transcript variant 3	NM_001134830.2:c.3427-5978=	NM_001134830.2:c.3427-5978T>G	NM_001134830.2:c.3427-5978T>C	NM_001134830.2:c.3427-5978T>A
AHI1 transcript variant 1	NM_001134831.1:c.3427-5978=	NM_001134831.1:c.3427-5978T>G	NM_001134831.1:c.3427-5978T>C	NM_001134831.1:c.3427-5978T>A
AHI1 transcript variant 1	NM_001134831.2:c.3427-5978=	NM_001134831.2:c.3427-5978T>G	NM_001134831.2:c.3427-5978T>C	NM_001134831.2:c.3427-5978T>A
AHI1 transcript variant 5	NM_001350503.2:c.3427-5978=	NM_001350503.2:c.3427-5978T>G	NM_001350503.2:c.3427-5978T>C	NM_001350503.2:c.3427-5978T>A
AHI1 transcript variant 6	NM_001350504.2:c.3427-5978=	NM_001350504.2:c.3427-5978T>G	NM_001350504.2:c.3427-5978T>C	NM_001350504.2:c.3427-5978T>A
AHI1 transcript variant 2	NM_017651.4:c.3427-5978=	NM_017651.4:c.3427-5978T>G	NM_017651.4:c.3427-5978T>C	NM_017651.4:c.3427-5978T>A
AHI1 transcript variant 2	NM_017651.5:c.3427-5978=	NM_017651.5:c.3427-5978T>G	NM_017651.5:c.3427-5978T>C	NM_017651.5:c.3427-5978T>A
AHI1 transcript variant X1	XM_005267038.1:c.3427-5978=	XM_005267038.1:c.3427-5978T>G	XM_005267038.1:c.3427-5978T>C	XM_005267038.1:c.3427-5978T>A
AHI1 transcript variant X2	XM_005267039.1:c.3427-5978=	XM_005267039.1:c.3427-5978T>G	XM_005267039.1:c.3427-5978T>C	XM_005267039.1:c.3427-5978T>A
AHI1 transcript variant X1	XM_011535910.4:c.3427-5978=	XM_011535910.4:c.3427-5978T>G	XM_011535910.4:c.3427-5978T>C	XM_011535910.4:c.3427-5978T>A
AHI1 transcript variant X2	XM_011535911.4:c.3427-5978=	XM_011535911.4:c.3427-5978T>G	XM_011535911.4:c.3427-5978T>C	XM_011535911.4:c.3427-5978T>A
AHI1 transcript variant X5	XM_047418939.1:c.3427-5978=	XM_047418939.1:c.3427-5978T>G	XM_047418939.1:c.3427-5978T>C	XM_047418939.1:c.3427-5978T>A
AHI1 transcript variant X6	XM_047418940.1:c.3427-5978=	XM_047418940.1:c.3427-5978T>G	XM_047418940.1:c.3427-5978T>C	XM_047418940.1:c.3427-5978T>A
AHI1 transcript variant X7	XM_047418941.1:c.3427-5978=	XM_047418941.1:c.3427-5978T>G	XM_047418941.1:c.3427-5978T>C	XM_047418941.1:c.3427-5978T>A
AHI1 transcript variant X8	XM_047418942.1:c.3427-5978=	XM_047418942.1:c.3427-5978T>G	XM_047418942.1:c.3427-5978T>C	XM_047418942.1:c.3427-5978T>A
AHI1 transcript variant X9	XM_047418943.1:c.3427-5978=	XM_047418943.1:c.3427-5978T>G	XM_047418943.1:c.3427-5978T>C	XM_047418943.1:c.3427-5978T>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#.

90 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10302470	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss11799854	Jul 11, 2003 (116)
3	SC_SNP	ss13138409	Dec 05, 2003 (119)
4	SSAHASNP	ss22491485	Apr 05, 2004 (121)
5	HGSV	ss77483899	Dec 06, 2007 (129)
6	HGSV	ss83245358	Dec 14, 2007 (130)
7	BCMHGSC_JDW	ss93565847	Mar 24, 2008 (129)
8	HUMANGENOME_JCVI	ss98433220	Feb 04, 2009 (130)
9	BGI	ss105445623	Feb 04, 2009 (130)
10	1000GENOMES	ss110969435	Jan 25, 2009 (130)
11	1000GENOMES	ss115163499	Jan 25, 2009 (130)
12	ILLUMINA-UK	ss116729997	Feb 14, 2009 (130)
13	ENSEMBL	ss143649275	Dec 01, 2009 (131)
14	ENSEMBL	ss144323054	Dec 01, 2009 (131)
15	GMI	ss157629087	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss162840857	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss164647410	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss167299701	Jul 04, 2010 (132)
19	BUSHMAN	ss202457283	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss207301822	Jul 04, 2010 (132)
21	1000GENOMES	ss222697662	Jul 14, 2010 (132)
22	1000GENOMES	ss233699627	Jul 15, 2010 (132)
23	1000GENOMES	ss240710104	Jul 15, 2010 (132)
24	BL	ss254731537	May 09, 2011 (134)
25	GMI	ss279036962	May 04, 2012 (137)
26	GMI	ss285511196	Apr 25, 2013 (138)
27	PJP	ss293732024	May 09, 2011 (134)
28	ILLUMINA	ss483396040	May 04, 2012 (137)
29	ILLUMINA	ss485154173	May 04, 2012 (137)
30	ILLUMINA	ss535608337	Sep 08, 2015 (146)
31	TISHKOFF	ss559551037	Apr 25, 2013 (138)
32	SSMP	ss653826595	Apr 25, 2013 (138)
33	ILLUMINA	ss780261505	Sep 08, 2015 (146)
34	ILLUMINA	ss782141193	Sep 08, 2015 (146)
35	ILLUMINA	ss835747382	Sep 08, 2015 (146)
36	EVA-GONL	ss983544154	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1074066805	Aug 21, 2014 (142)
38	1000GENOMES	ss1322437590	Aug 21, 2014 (142)
39	HAMMER_LAB	ss1397472266	Sep 08, 2015 (146)
40	DDI	ss1430907437	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1581913926	Apr 01, 2015 (144)
42	EVA_DECODE	ss1593114339	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1616784959	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1659778992	Apr 01, 2015 (144)
45	HAMMER_LAB	ss1804690332	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1926788969	Feb 12, 2016 (147)
47	GENOMED	ss1970535561	Jul 19, 2016 (147)
48	JJLAB	ss2024052511	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2152245247	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2288738698	Dec 20, 2016 (150)
51	SYSTEMSBIOZJU	ss2626519626	Nov 08, 2017 (151)
52	ILLUMINA	ss2634516271	Nov 08, 2017 (151)
53	GRF	ss2707877254	Nov 08, 2017 (151)
54	GNOMAD	ss2845594331	Nov 08, 2017 (151)
55	SWEGEN	ss3000017270	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3025818868	Nov 08, 2017 (151)
57	CSHL	ss3347247655	Nov 08, 2017 (151)
58	ILLUMINA	ss3629664700	Oct 12, 2018 (152)
59	ILLUMINA	ss3632429282	Oct 12, 2018 (152)
60	ILLUMINA	ss3642521024	Oct 12, 2018 (152)
61	URBANLAB	ss3648479852	Oct 12, 2018 (152)
62	EGCUT_WGS	ss3667938059	Jul 13, 2019 (153)
63	EVA_DECODE	ss3718359483	Jul 13, 2019 (153)
64	ACPOP	ss3734019640	Jul 13, 2019 (153)
65	EVA	ss3765719723	Jul 13, 2019 (153)
66	PACBIO	ss3785632070	Jul 13, 2019 (153)
67	PACBIO	ss3790958236	Jul 13, 2019 (153)
68	PACBIO	ss3795837535	Jul 13, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3808877663	Jul 13, 2019 (153)
70	EVA	ss3830213258	Apr 26, 2020 (154)
71	EVA	ss3838593908	Apr 26, 2020 (154)
72	EVA	ss3844044072	Apr 26, 2020 (154)
73	SGDP_PRJ	ss3865796127	Apr 26, 2020 (154)
74	KRGDB	ss3912757246	Apr 26, 2020 (154)
75	KOGIC	ss3960148057	Apr 26, 2020 (154)
76	TOPMED	ss4723296506	Apr 26, 2021 (155)
77	TOMMO_GENOMICS	ss5180116341	Apr 26, 2021 (155)
78	1000G_HIGH_COVERAGE	ss5270495116	Oct 14, 2022 (156)
79	EVA	ss5315193475	Oct 14, 2022 (156)
80	EVA	ss5369275483	Oct 14, 2022 (156)
81	HUGCELL_USP	ss5467925348	Oct 14, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5557513161	Oct 14, 2022 (156)
83	SANFORD_IMAGENETICS	ss5641574292	Oct 14, 2022 (156)
84	TOMMO_GENOMICS	ss5719053215	Oct 14, 2022 (156)
85	YY_MCH	ss5807994656	Oct 14, 2022 (156)
86	EVA	ss5843047245	Oct 14, 2022 (156)
87	EVA	ss5855600935	Oct 14, 2022 (156)
88	EVA	ss5886121926	Oct 14, 2022 (156)
89	EVA	ss5970322911	Oct 14, 2022 (156)
90	EVA	ss5970322912	Oct 14, 2022 (156)
91	1000Genomes	NC_000006.11 - 135627674	Oct 12, 2018 (152)
92	1000Genomes_30x	NC_000006.12 - 135306536	Oct 14, 2022 (156)
93	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 135627674	Oct 12, 2018 (152)
94	Genome-wide autozygosity in Daghestan	NC_000006.10 - 135669367	Apr 26, 2020 (154)
95	Genetic variation in the Estonian population	NC_000006.11 - 135627674	Oct 12, 2018 (152)
96	The Danish reference pan genome	NC_000006.11 - 135627674	Apr 26, 2020 (154)
97	gnomAD - Genomes	NC_000006.12 - 135306536	Apr 26, 2021 (155)
98	Genome of the Netherlands Release 5	NC_000006.11 - 135627674	Apr 26, 2020 (154)
99	HapMap	NC_000006.12 - 135306536	Apr 26, 2020 (154)
100	KOREAN population from KRGDB	NC_000006.11 - 135627674	Apr 26, 2020 (154)
101	Korean Genome Project	NC_000006.12 - 135306536	Apr 26, 2020 (154)
102	Northern Sweden	NC_000006.11 - 135627674	Jul 13, 2019 (153)
103	Qatari	NC_000006.11 - 135627674	Apr 26, 2020 (154)
104	SGDP_PRJ	NC_000006.11 - 135627674	Apr 26, 2020 (154)
105	Siberian	NC_000006.11 - 135627674	Apr 26, 2020 (154)
106	8.3KJPN	NC_000006.11 - 135627674	Apr 26, 2021 (155)
107	14KJPN	NC_000006.12 - 135306536	Oct 14, 2022 (156)
108	TopMed	NC_000006.12 - 135306536	Apr 26, 2021 (155)
109	UK 10K study - Twins	NC_000006.11 - 135627674	Oct 12, 2018 (152)
110	A Vietnamese Genetic Variation Database	NC_000006.11 - 135627674	Jul 13, 2019 (153)
111	ALFA	NC_000006.12 - 135306536	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)
rs57067981	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
19934640, ss3912757246	NC_000006.11:135627673:A:C	NC_000006.12:135306535:A:C	(self)
ss77483899, ss83245358	NC_000006.9:135669366:A:G	NC_000006.12:135306535:A:G	(self)
446677, ss93565847, ss110969435, ss115163499, ss116729997, ss162840857, ss164647410, ss167299701, ss202457283, ss207301822, ss254731537, ss279036962, ss285511196, ss293732024, ss485154173, ss1397472266, ss1593114339	NC_000006.10:135669366:A:G	NC_000006.12:135306535:A:G	(self)
34312882, 19125253, 13676307, 8078865, 8518005, 19934640, 7304505, 8830899, 17813107, 4761601, 38085648, 19125253, 4257372, ss222697662, ss233699627, ss240710104, ss483396040, ss535608337, ss559551037, ss653826595, ss780261505, ss782141193, ss835747382, ss983544154, ss1074066805, ss1322437590, ss1430907437, ss1581913926, ss1616784959, ss1659778992, ss1804690332, ss1926788969, ss1970535561, ss2024052511, ss2152245247, ss2626519626, ss2634516271, ss2707877254, ss2845594331, ss3000017270, ss3347247655, ss3629664700, ss3632429282, ss3642521024, ss3667938059, ss3734019640, ss3765719723, ss3785632070, ss3790958236, ss3795837535, ss3830213258, ss3838593908, ss3865796127, ss3912757246, ss5180116341, ss5315193475, ss5369275483, ss5641574292, ss5843047245, ss5970322911, ss5970322912	NC_000006.11:135627673:A:G	NC_000006.12:135306535:A:G	(self)
45039096, 242320050, 3258354, 16526058, 52890319, 560674064, 13615555375, ss2288738698, ss3025818868, ss3648479852, ss3718359483, ss3808877663, ss3844044072, ss3960148057, ss4723296506, ss5270495116, ss5467925348, ss5557513161, ss5719053215, ss5807994656, ss5855600935, ss5886121926	NC_000006.12:135306535:A:G	NC_000006.12:135306535:A:G	(self)
ss10302470, ss11799854, ss13138409	NT_025741.12:39732102:A:G	NC_000006.12:135306535:A:G	(self)
ss22491485	NT_025741.13:39732102:A:G	NC_000006.12:135306535:A:G	(self)
ss98433220, ss105445623, ss143649275, ss144323054, ss157629087	NT_025741.15:39797130:A:G	NC_000006.12:135306535:A:G	(self)
19934640, ss3912757246	NC_000006.11:135627673:A:T	NC_000006.12:135306535:A:T	(self)

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

1 citation for rs6570000

PMID	Title	Author	Year	Journal
18782849	Association of common variants in the Joubert syndrome gene (AHI1) with autism.	Alvarez Retuerto AI et al.	2008	Human molecular genetics

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6570000