Name: rs8522
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.

rs8522

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:7857386 (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>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.245648 (70021/285046, ALFA)
G=0.308599 (81683/264690, TOPMED)
G=0.327073 (81105/247972, GnomAD_exome) (+ 25 more)
G=0.289241 (40437/139804, GnomAD)
G=0.324108 (38727/119488, ExAC)
G=0.40879 (32166/78686, PAGE_STUDY)
A=0.15861 (4482/28258, 14KJPN)
A=0.15805 (2649/16760, 8.3KJPN)
G=0.26342 (3426/13006, GO-ESP)
G=0.4322 (2768/6404, 1000G_30x)
G=0.4363 (2185/5008, 1000G)
G=0.2147 (962/4480, Estonian)
G=0.2221 (856/3854, ALSPAC)
G=0.2203 (817/3708, TWINSUK)
A=0.1411 (413/2928, KOREAN)
G=0.4476 (932/2082, HGDP_Stanford)
G=0.4154 (786/1892, HapMap)
G=0.175 (175/998, GoNL)
A=0.165 (131/792, PRJEB37584)
G=0.290 (174/600, NorthernSweden)
A=0.219 (127/581, Vietnamese)
G=0.199 (106/534, MGP)
A=0.316 (112/354, SGDP_PRJ)
G=0.232 (70/302, FINRISK)
G=0.264 (57/216, Qatari)
G=0.11 (8/76, Ancient Sardinia)
G=0.38 (15/40, GENOME_DK)
A=0.29 (10/34, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NAA38 : Missense Variant
CYB5D1 : 2KB Upstream 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	301504	A=0.753827	G=0.246173, T=0.000000
European	Sub	246998	A=0.780763	G=0.219237, T=0.000000
African	Sub	15020	A=0.65839	G=0.34161, T=0.00000
African Others	Sub	534	A=0.646	G=0.354, T=0.000
African American	Sub	14486	A=0.65884	G=0.34116, T=0.00000
Asian	Sub	3740	A=0.1754	G=0.8246, T=0.0000
East Asian	Sub	2372	A=0.1703	G=0.8297, T=0.0000
Other Asian	Sub	1368	A=0.1842	G=0.8158, T=0.0000
Latin American 1	Sub	1198	A=0.7070	G=0.2930, T=0.0000
Latin American 2	Sub	6912	A=0.5926	G=0.4074, T=0.0000
South Asian	Sub	5036	A=0.6180	G=0.3820, T=0.0000
Other	Sub	22600	A=0.70066	G=0.29934, 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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	285046	A=0.754352	G=0.245648, T=0.000000
Allele Frequency Aggregator	European	Sub	236824	A=0.780702	G=0.219298, T=0.000000
Allele Frequency Aggregator	Other	Sub	21152	A=0.69497	G=0.30503, T=0.00000
Allele Frequency Aggregator	African	Sub	10184	A=0.66035	G=0.33965, T=0.00000
Allele Frequency Aggregator	Latin American 2	Sub	6912	A=0.5926	G=0.4074, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5036	A=0.6180	G=0.3820, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3740	A=0.1754	G=0.8246, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	1198	A=0.7070	G=0.2930, T=0.0000
TopMed	Global	Study-wide	264690	A=0.691401	G=0.308599
gnomAD - Exomes	Global	Study-wide	247972	A=0.672927	G=0.327073
gnomAD - Exomes	European	Sub	133736	A=0.772522	G=0.227478
gnomAD - Exomes	Asian	Sub	48294	A=0.44912	G=0.55088
gnomAD - Exomes	American	Sub	34036	A=0.58532	G=0.41468
gnomAD - Exomes	African	Sub	15914	A=0.63862	G=0.36138
gnomAD - Exomes	Ashkenazi Jewish	Sub	9950	A=0.7544	G=0.2456
gnomAD - Exomes	Other	Sub	6042	A=0.7071	G=0.2929
gnomAD - Genomes	Global	Study-wide	139804	A=0.710759	G=0.289241
gnomAD - Genomes	European	Sub	75722	A=0.77557	G=0.22443
gnomAD - Genomes	African	Sub	41874	A=0.65076	G=0.34924
gnomAD - Genomes	American	Sub	13626	A=0.64795	G=0.35205
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.7703	G=0.2297
gnomAD - Genomes	East Asian	Sub	3118	A=0.1729	G=0.8271
gnomAD - Genomes	Other	Sub	2142	A=0.6825	G=0.3175
ExAC	Global	Study-wide	119488	A=0.675892	G=0.324108
ExAC	Europe	Sub	72104	A=0.77202	G=0.22798
ExAC	Asian	Sub	24974	A=0.46028	G=0.53972
ExAC	American	Sub	11552	A=0.57531	G=0.42469
ExAC	African	Sub	9962	A=0.6362	G=0.3638
ExAC	Other	Sub	896	A=0.688	G=0.312
The PAGE Study	Global	Study-wide	78686	A=0.59121	G=0.40879
The PAGE Study	AfricanAmerican	Sub	32510	A=0.64657	G=0.35343
The PAGE Study	Mexican	Sub	10806	A=0.58986	G=0.41014
The PAGE Study	Asian	Sub	8318	A=0.1722	G=0.8278
The PAGE Study	PuertoRican	Sub	7916	A=0.7057	G=0.2943
The PAGE Study	NativeHawaiian	Sub	4532	A=0.5128	G=0.4872
The PAGE Study	Cuban	Sub	4230	A=0.7206	G=0.2794
The PAGE Study	Dominican	Sub	3828	A=0.6857	G=0.3143
The PAGE Study	CentralAmerican	Sub	2448	A=0.6279	G=0.3721
The PAGE Study	SouthAmerican	Sub	1982	A=0.6100	G=0.3900
The PAGE Study	NativeAmerican	Sub	1260	A=0.6865	G=0.3135
The PAGE Study	SouthAsian	Sub	856	A=0.584	G=0.416
14KJPN	JAPANESE	Study-wide	28258	A=0.15861	G=0.84139
8.3KJPN	JAPANESE	Study-wide	16760	A=0.15805	G=0.84195
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.73658	G=0.26342
GO Exome Sequencing Project	European American	Sub	8600	A=0.7812	G=0.2188
GO Exome Sequencing Project	African American	Sub	4406	A=0.6496	G=0.3504
1000Genomes_30x	Global	Study-wide	6404	A=0.5678	G=0.4322
1000Genomes_30x	African	Sub	1786	A=0.6008	G=0.3992
1000Genomes_30x	Europe	Sub	1266	A=0.8009	G=0.1991
1000Genomes_30x	South Asian	Sub	1202	A=0.5899	G=0.4101
1000Genomes_30x	East Asian	Sub	1170	A=0.2154	G=0.7846
1000Genomes_30x	American	Sub	980	A=0.600	G=0.400
1000Genomes	Global	Study-wide	5008	A=0.5637	G=0.4363
1000Genomes	African	Sub	1322	A=0.6120	G=0.3880
1000Genomes	East Asian	Sub	1008	A=0.2044	G=0.7956
1000Genomes	Europe	Sub	1006	A=0.8052	G=0.1948
1000Genomes	South Asian	Sub	978	A=0.588	G=0.412
1000Genomes	American	Sub	694	A=0.610	G=0.390
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7853	G=0.2147
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7779	G=0.2221
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7797	G=0.2203
KOREAN population from KRGDB	KOREAN	Study-wide	2928	A=0.1411	G=0.8589
HGDP-CEPH-db Supplement 1	Global	Study-wide	2082	A=0.5524	G=0.4476
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.206	G=0.794
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.609	G=0.391
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.683	G=0.317
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.791	G=0.209
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.711	G=0.289
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.398	G=0.602
HGDP-CEPH-db Supplement 1	Oceania	Sub	70	A=0.73	G=0.27
HapMap	Global	Study-wide	1892	A=0.5846	G=0.4154
HapMap	American	Sub	770	A=0.575	G=0.425
HapMap	African	Sub	692	A=0.682	G=0.318
HapMap	Asian	Sub	254	A=0.150	G=0.850
HapMap	Europe	Sub	176	A=0.869	G=0.131
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.825	G=0.175
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.165	G=0.835
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.165	G=0.835
Northern Sweden	ACPOP	Study-wide	600	A=0.710	G=0.290
A Vietnamese Genetic Variation Database	Global	Study-wide	581	A=0.219	G=0.781
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.801	G=0.199
SGDP_PRJ	Global	Study-wide	354	A=0.316	G=0.684
FINRISK	Finnish from FINRISK project	Study-wide	302	A=0.768	G=0.232
Qatari	Global	Study-wide	216	A=0.736	G=0.264
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	76	A=0.89	G=0.11
The Danish reference pan genome	Danish	Study-wide	40	A=0.62	G=0.38
Siberian	Global	Study-wide	34	A=0.29	G=0.71

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 17	NC_000017.11:g.7857386A>G
GRCh38.p14 chr 17	NC_000017.11:g.7857386A>T
GRCh37.p13 chr 17	NC_000017.10:g.7760704A>G
GRCh37.p13 chr 17	NC_000017.10:g.7760704A>T
LOC112533665 genomic region	NG_057156.1:g.16A>G
LOC112533665 genomic region	NG_057156.1:g.16A>T

Gene: NAA38, N-alpha-acetyltransferase 38, NatC auxiliary subunit (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NAA38 transcript variant 4	NM_001330111.2:c.4-188T>C	N/A	Intron Variant
NAA38 transcript variant 1	NM_032356.6:c.38T>C	L [CTG] > P [CCG]	Coding Sequence Variant
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 1	NP_115732.2:p.Leu13Pro	L (Leu) > P (Pro)	Missense Variant
NAA38 transcript variant 1	NM_032356.6:c.38T>A	L [CTG] > Q [CAG]	Coding Sequence Variant
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 1	NP_115732.2:p.Leu13Gln	L (Leu) > Q (Gln)	Missense Variant
NAA38 transcript variant 3	NM_001320925.4:c.78T>C	A [GCT] > A [GCC]	Coding Sequence Variant
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 3	NP_001307854.1:p.Ala26=	A (Ala) > A (Ala)	Synonymous Variant
NAA38 transcript variant 3	NM_001320925.4:c.78T>A	A [GCT] > A [GCA]	Coding Sequence Variant
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 3	NP_001307854.1:p.Ala26=	A (Ala) > A (Ala)	Synonymous Variant
NAA38 transcript variant 2	NM_001320924.3:c.78T>C	A [GCT] > A [GCC]	Coding Sequence Variant
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 2	NP_001307853.1:p.Ala26=	A (Ala) > A (Ala)	Synonymous Variant
NAA38 transcript variant 2	NM_001320924.3:c.78T>A	A [GCT] > A [GCA]	Coding Sequence Variant
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 2	NP_001307853.1:p.Ala26=	A (Ala) > A (Ala)	Synonymous Variant

Gene: CYB5D1, cytochrome b5 domain containing 1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
CYB5D1 transcript variant 2	NM_001330110.2:c.	N/A	Upstream Transcript Variant
CYB5D1 transcript variant 1	NM_144607.6:c.	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.

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=	G	T
GRCh38.p14 chr 17	NC_000017.11:g.7857386=	NC_000017.11:g.7857386A>G	NC_000017.11:g.7857386A>T
GRCh37.p13 chr 17	NC_000017.10:g.7760704=	NC_000017.10:g.7760704A>G	NC_000017.10:g.7760704A>T
LOC112533665 genomic region	NG_057156.1:g.16=	NG_057156.1:g.16A>G	NG_057156.1:g.16A>T
NAA38 transcript variant 1	NM_032356.6:c.38=	NM_032356.6:c.38T>C	NM_032356.6:c.38T>A
NAA38 transcript variant 1	NM_032356.5:c.38=	NM_032356.5:c.38T>C	NM_032356.5:c.38T>A
NAA38 transcript variant 1	NM_032356.4:c.38=	NM_032356.4:c.38T>C	NM_032356.4:c.38T>A
NAA38 transcript	NM_032356.3:c.38=	NM_032356.3:c.38T>C	NM_032356.3:c.38T>A
NAA38 transcript variant 3	NM_001320925.4:c.78=	NM_001320925.4:c.78T>C	NM_001320925.4:c.78T>A
NAA38 transcript variant 3	NM_001320925.3:c.78=	NM_001320925.3:c.78T>C	NM_001320925.3:c.78T>A
NAA38 transcript variant 3	NM_001320925.2:c.78=	NM_001320925.2:c.78T>C	NM_001320925.2:c.78T>A
NAA38 transcript variant 3	NM_001320925.1:c.78=	NM_001320925.1:c.78T>C	NM_001320925.1:c.78T>A
NAA38 transcript variant 2	NM_001320924.3:c.78=	NM_001320924.3:c.78T>C	NM_001320924.3:c.78T>A
NAA38 transcript variant 2	NM_001320924.2:c.78=	NM_001320924.2:c.78T>C	NM_001320924.2:c.78T>A
NAA38 transcript variant 2	NM_001320924.1:c.78=	NM_001320924.1:c.78T>C	NM_001320924.1:c.78T>A
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 1	NP_115732.2:p.Leu13=	NP_115732.2:p.Leu13Pro	NP_115732.2:p.Leu13Gln
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 3	NP_001307854.1:p.Ala26=	NP_001307854.1:p.Ala26=	NP_001307854.1:p.Ala26=
N-alpha-acetyltransferase 38, NatC auxiliary subunit isoform 2	NP_001307853.1:p.Ala26=	NP_001307853.1:p.Ala26=	NP_001307853.1:p.Ala26=
NAA38 transcript variant 4	NM_001330111.2:c.4-188=	NM_001330111.2:c.4-188T>C	NM_001330111.2:c.4-188T>A
LSMD1 transcript variant X3	XM_005256824.1:c.4-188=	XM_005256824.1:c.4-188T>C	XM_005256824.1:c.4-188T>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#.

161 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CGAP-GAI	ss10513	Sep 19, 2000 (52)
2	LEE	ss1519609	Oct 13, 2000 (102)
3	YUSUKE	ss5012814	Aug 28, 2002 (126)
4	BCM_SSAHASNP	ss10869423	Jul 11, 2003 (126)
5	CGAP-GAI	ss16253193	Feb 28, 2004 (126)
6	MGC_GENOME_DIFF	ss28509314	Sep 24, 2004 (126)
7	ILLUMINA	ss65728080	Oct 15, 2006 (127)
8	ILLUMINA	ss66682066	Nov 30, 2006 (127)
9	ILLUMINA	ss67307191	Nov 30, 2006 (127)
10	ILLUMINA	ss67712457	Nov 30, 2006 (127)
11	PERLEGEN	ss69190686	May 17, 2007 (127)
12	ILLUMINA	ss70785836	May 24, 2008 (130)
13	ILLUMINA	ss71362639	May 17, 2007 (127)
14	AFFY	ss74805902	Aug 16, 2007 (128)
15	ILLUMINA	ss75561717	Dec 06, 2007 (129)
16	ILLUMINA	ss79170118	Dec 14, 2007 (130)
17	KRIBB_YJKIM	ss83348552	Dec 14, 2007 (130)
18	HGSV	ss84571176	Dec 14, 2007 (130)
19	CORNELL	ss86272181	Mar 23, 2008 (129)
20	BGI	ss106496192	Feb 04, 2009 (130)
21	ILLUMINA-UK	ss117989854	Feb 14, 2009 (130)
22	ILLUMINA	ss122239892	Dec 01, 2009 (131)
23	ILLUMINA	ss154474079	Dec 01, 2009 (131)
24	GMI	ss157813454	Dec 01, 2009 (131)
25	ILLUMINA	ss159648566	Dec 01, 2009 (131)
26	SEATTLESEQ	ss159734503	Dec 01, 2009 (131)
27	ILLUMINA	ss160958129	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss167757423	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss169014145	Jul 04, 2010 (132)
30	ILLUMINA	ss172410554	Jul 04, 2010 (132)
31	ILLUMINA	ss174749803	Jul 04, 2010 (132)
32	BUSHMAN	ss202185705	Jul 04, 2010 (132)
33	1000GENOMES	ss211771266	Jul 14, 2010 (132)
34	1000GENOMES	ss227450293	Jul 14, 2010 (132)
35	1000GENOMES	ss237174246	Jul 15, 2010 (132)
36	1000GENOMES	ss243486128	Jul 15, 2010 (132)
37	GMI	ss282682835	May 04, 2012 (137)
38	NHLBI-ESP	ss342443662	May 09, 2011 (134)
39	ILLUMINA	ss481809481	May 04, 2012 (137)
40	ILLUMINA	ss481841974	May 04, 2012 (137)
41	ILLUMINA	ss482803126	Sep 08, 2015 (146)
42	ILLUMINA	ss485699421	May 04, 2012 (137)
43	1000GENOMES	ss491115651	May 04, 2012 (137)
44	EXOME_CHIP	ss491516745	May 04, 2012 (137)
45	CLINSEQ_SNP	ss491729449	May 04, 2012 (137)
46	ILLUMINA	ss533284330	Sep 08, 2015 (146)
47	TISHKOFF	ss565152985	Apr 25, 2013 (138)
48	SSMP	ss660941034	Apr 25, 2013 (138)
49	ILLUMINA	ss778629400	Sep 08, 2015 (146)
50	ILLUMINA	ss780724587	Sep 08, 2015 (146)
51	ILLUMINA	ss783295267	Sep 08, 2015 (146)
52	ILLUMINA	ss783400586	Sep 08, 2015 (146)
53	ILLUMINA	ss784247760	Sep 08, 2015 (146)
54	ILLUMINA	ss825500636	Apr 01, 2015 (144)
55	ILLUMINA	ss832556560	Sep 08, 2015 (146)
56	ILLUMINA	ss833159387	Jul 13, 2019 (153)
57	ILLUMINA	ss834086986	Sep 08, 2015 (146)
58	JMKIDD_LAB	ss974497404	Aug 21, 2014 (142)
59	EVA-GONL	ss992900457	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1067567696	Aug 21, 2014 (142)
61	JMKIDD_LAB	ss1080915325	Aug 21, 2014 (142)
62	1000GENOMES	ss1357818610	Aug 21, 2014 (142)
63	DDI	ss1427970576	Apr 01, 2015 (144)
64	EVA_GENOME_DK	ss1578079562	Apr 01, 2015 (144)
65	EVA_FINRISK	ss1584103968	Apr 01, 2015 (144)
66	EVA_UK10K_ALSPAC	ss1635242939	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1678236972	Apr 01, 2015 (144)
68	EVA_EXAC	ss1692586667	Apr 01, 2015 (144)
69	EVA_DECODE	ss1696941325	Apr 01, 2015 (144)
70	EVA_MGP	ss1711447330	Apr 01, 2015 (144)
71	EVA_SVP	ss1713568333	Apr 01, 2015 (144)
72	ILLUMINA	ss1752242980	Sep 08, 2015 (146)
73	ILLUMINA	ss1752242981	Sep 08, 2015 (146)
74	HAMMER_LAB	ss1808693016	Sep 08, 2015 (146)
75	ILLUMINA	ss1917914243	Feb 12, 2016 (147)
76	WEILL_CORNELL_DGM	ss1936347208	Feb 12, 2016 (147)
77	ILLUMINA	ss1946427679	Feb 12, 2016 (147)
78	ILLUMINA	ss1959721796	Feb 12, 2016 (147)
79	JJLAB	ss2028961691	Sep 14, 2016 (149)
80	USC_VALOUEV	ss2157409600	Dec 20, 2016 (150)
81	HUMAN_LONGEVITY	ss2215330467	Dec 20, 2016 (150)
82	SYSTEMSBIOZJU	ss2628972958	Nov 08, 2017 (151)
83	ILLUMINA	ss2633372737	Nov 08, 2017 (151)
84	GRF	ss2701952176	Nov 08, 2017 (151)
85	GNOMAD	ss2742420385	Nov 08, 2017 (151)
86	GNOMAD	ss2749682827	Nov 08, 2017 (151)
87	GNOMAD	ss2947451454	Nov 08, 2017 (151)
88	AFFY	ss2985085015	Nov 08, 2017 (151)
89	SWEGEN	ss3015160075	Nov 08, 2017 (151)
90	EVA_SAMSUNG_MC	ss3023070248	Nov 08, 2017 (151)
91	BIOINF_KMB_FNS_UNIBA	ss3028299974	Nov 08, 2017 (151)
92	CSHL	ss3351642186	Nov 08, 2017 (151)
93	ILLUMINA	ss3627620742	Oct 12, 2018 (152)
94	ILLUMINA	ss3627620743	Oct 12, 2018 (152)
95	ILLUMINA	ss3631355316	Oct 12, 2018 (152)
96	ILLUMINA	ss3633134567	Oct 12, 2018 (152)
97	ILLUMINA	ss3633841648	Oct 12, 2018 (152)
98	ILLUMINA	ss3634663572	Oct 12, 2018 (152)
99	ILLUMINA	ss3634663573	Oct 12, 2018 (152)
100	ILLUMINA	ss3635529608	Oct 12, 2018 (152)
101	ILLUMINA	ss3636353876	Oct 12, 2018 (152)
102	ILLUMINA	ss3637281113	Oct 12, 2018 (152)
103	ILLUMINA	ss3638148311	Oct 12, 2018 (152)
104	ILLUMINA	ss3639084906	Oct 12, 2018 (152)
105	ILLUMINA	ss3639549095	Oct 12, 2018 (152)
106	ILLUMINA	ss3640370891	Oct 12, 2018 (152)
107	ILLUMINA	ss3640370892	Oct 12, 2018 (152)
108	ILLUMINA	ss3641076798	Oct 12, 2018 (152)
109	ILLUMINA	ss3641372241	Oct 12, 2018 (152)
110	ILLUMINA	ss3643127701	Oct 12, 2018 (152)
111	ILLUMINA	ss3644680762	Oct 12, 2018 (152)
112	OMUKHERJEE_ADBS	ss3646503466	Oct 12, 2018 (152)
113	ILLUMINA	ss3653857318	Oct 12, 2018 (152)
114	EGCUT_WGS	ss3682125164	Jul 13, 2019 (153)
115	EVA_DECODE	ss3700042388	Jul 13, 2019 (153)
116	ACPOP	ss3741853780	Jul 13, 2019 (153)
117	ILLUMINA	ss3744439311	Jul 13, 2019 (153)
118	ILLUMINA	ss3744963916	Jul 13, 2019 (153)
119	ILLUMINA	ss3744963917	Jul 13, 2019 (153)
120	EVA	ss3754423267	Jul 13, 2019 (153)
121	PAGE_CC	ss3771911212	Jul 13, 2019 (153)
122	ILLUMINA	ss3772461959	Jul 13, 2019 (153)
123	ILLUMINA	ss3772461960	Jul 13, 2019 (153)
124	KHV_HUMAN_GENOMES	ss3819693229	Jul 13, 2019 (153)
125	EVA	ss3825075403	Apr 27, 2020 (154)
126	EVA	ss3825531052	Apr 27, 2020 (154)
127	EVA	ss3825545825	Apr 27, 2020 (154)
128	EVA	ss3825891865	Apr 27, 2020 (154)
129	EVA	ss3834767979	Apr 27, 2020 (154)
130	EVA	ss3840992397	Apr 27, 2020 (154)
131	EVA	ss3846486805	Apr 27, 2020 (154)
132	HGDP	ss3847558051	Apr 27, 2020 (154)
133	SGDP_PRJ	ss3885292342	Apr 27, 2020 (154)
134	KRGDB	ss3934886130	Apr 27, 2020 (154)
135	FSA-LAB	ss3984107076	Apr 27, 2021 (155)
136	EVA	ss3984719712	Apr 27, 2021 (155)
137	EVA	ss3985779912	Apr 27, 2021 (155)
138	EVA	ss3986072749	Apr 27, 2021 (155)
139	EVA	ss3986711928	Apr 27, 2021 (155)
140	TOPMED	ss5028716366	Apr 27, 2021 (155)
141	TOMMO_GENOMICS	ss5221396001	Apr 27, 2021 (155)
142	EVA	ss5236939465	Apr 27, 2021 (155)
143	1000G_HIGH_COVERAGE	ss5302349066	Oct 17, 2022 (156)
144	EVA	ss5315872055	Oct 17, 2022 (156)
145	EVA	ss5426249757	Oct 17, 2022 (156)
146	HUGCELL_USP	ss5495531868	Oct 17, 2022 (156)
147	EVA	ss5511719104	Oct 17, 2022 (156)
148	1000G_HIGH_COVERAGE	ss5605666116	Oct 17, 2022 (156)
149	EVA	ss5623969860	Oct 17, 2022 (156)
150	EVA	ss5624068577	Oct 17, 2022 (156)
151	SANFORD_IMAGENETICS	ss5659679031	Oct 17, 2022 (156)
152	TOMMO_GENOMICS	ss5776963171	Oct 17, 2022 (156)
153	EVA	ss5799969861	Oct 17, 2022 (156)
154	YY_MCH	ss5816316736	Oct 17, 2022 (156)
155	EVA	ss5833691401	Oct 17, 2022 (156)
156	EVA	ss5847788109	Oct 17, 2022 (156)
157	EVA	ss5848440596	Oct 17, 2022 (156)
158	EVA	ss5851729587	Oct 17, 2022 (156)
159	EVA	ss5913139663	Oct 17, 2022 (156)
160	EVA	ss5936566163	Oct 17, 2022 (156)
161	EVA	ss5951089370	Oct 17, 2022 (156)
162	1000Genomes	NC_000017.10 - 7760704	Oct 12, 2018 (152)
163	1000Genomes_30x	NC_000017.11 - 7857386	Oct 17, 2022 (156)
164	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 7760704	Oct 12, 2018 (152)
165	Genetic variation in the Estonian population	NC_000017.10 - 7760704	Oct 12, 2018 (152)
166	ExAC	NC_000017.10 - 7760704	Oct 12, 2018 (152)
167	FINRISK	NC_000017.10 - 7760704	Apr 27, 2020 (154)
168	The Danish reference pan genome	NC_000017.10 - 7760704	Apr 27, 2020 (154)
169	gnomAD - Genomes	NC_000017.11 - 7857386	Apr 27, 2021 (155)
170	gnomAD - Exomes	NC_000017.10 - 7760704	Jul 13, 2019 (153)
171	GO Exome Sequencing Project	NC_000017.10 - 7760704	Oct 12, 2018 (152)
172	Genome of the Netherlands Release 5	NC_000017.10 - 7760704	Apr 27, 2020 (154)
173	HGDP-CEPH-db Supplement 1	NC_000017.9 - 7701429	Apr 27, 2020 (154)
174	HapMap	NC_000017.11 - 7857386	Apr 27, 2020 (154)
175	KOREAN population from KRGDB	NC_000017.10 - 7760704	Apr 27, 2020 (154)
176	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 7760704	Apr 27, 2020 (154)
177	Northern Sweden	NC_000017.10 - 7760704	Jul 13, 2019 (153)
178	The PAGE Study	NC_000017.11 - 7857386	Jul 13, 2019 (153)
179	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 7760704	Apr 27, 2021 (155)
180	CNV burdens in cranial meningiomas	NC_000017.10 - 7760704	Apr 27, 2021 (155)
181	Qatari	NC_000017.10 - 7760704	Apr 27, 2020 (154)
182	SGDP_PRJ	NC_000017.10 - 7760704	Apr 27, 2020 (154)
183	Siberian	NC_000017.10 - 7760704	Apr 27, 2020 (154)
184	8.3KJPN	NC_000017.10 - 7760704	Apr 27, 2021 (155)
185	14KJPN	NC_000017.11 - 7857386	Oct 17, 2022 (156)
186	TopMed	NC_000017.11 - 7857386	Apr 27, 2021 (155)
187	UK 10K study - Twins	NC_000017.10 - 7760704	Oct 12, 2018 (152)
188	A Vietnamese Genetic Variation Database	NC_000017.10 - 7760704	Jul 13, 2019 (153)
189	ALFA	NC_000017.11 - 7857386	Apr 27, 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)
rs1129549	Jan 04, 2002 (102)
rs3826332	Mar 11, 2006 (126)
rs11551746	Mar 11, 2006 (126)
rs17855012	Mar 11, 2006 (126)
rs52822583	Sep 21, 2007 (128)
rs58072623	May 24, 2008 (130)
rs117027889	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
235943, ss84571176, ss117989854, ss167757423, ss169014145, ss202185705, ss211771266, ss282682835, ss481809481, ss491729449, ss825500636, ss1696941325, ss1713568333, ss3639084906, ss3639549095, ss3643127701, ss3847558051	NC_000017.9:7701428:A:G	NC_000017.11:7857385:A:G	(self)
71029460, 39394171, 27863412, 3014886, 100429, 4284919, 11719121, 1532530, 17562222, 42063524, 563090, 15138645, 1005839, 269253, 18389130, 37309322, 9925954, 79365308, 39394171, 8726662, ss227450293, ss237174246, ss243486128, ss342443662, ss481841974, ss482803126, ss485699421, ss491115651, ss491516745, ss533284330, ss565152985, ss660941034, ss778629400, ss780724587, ss783295267, ss783400586, ss784247760, ss832556560, ss833159387, ss834086986, ss974497404, ss992900457, ss1067567696, ss1080915325, ss1357818610, ss1427970576, ss1578079562, ss1584103968, ss1635242939, ss1678236972, ss1692586667, ss1711447330, ss1752242980, ss1752242981, ss1808693016, ss1917914243, ss1936347208, ss1946427679, ss1959721796, ss2028961691, ss2157409600, ss2628972958, ss2633372737, ss2701952176, ss2742420385, ss2749682827, ss2947451454, ss2985085015, ss3015160075, ss3023070248, ss3351642186, ss3627620742, ss3627620743, ss3631355316, ss3633134567, ss3633841648, ss3634663572, ss3634663573, ss3635529608, ss3636353876, ss3637281113, ss3638148311, ss3640370891, ss3640370892, ss3641076798, ss3641372241, ss3644680762, ss3646503466, ss3653857318, ss3682125164, ss3741853780, ss3744439311, ss3744963916, ss3744963917, ss3754423267, ss3772461959, ss3772461960, ss3825075403, ss3825531052, ss3825545825, ss3825891865, ss3834767979, ss3840992397, ss3885292342, ss3934886130, ss3984107076, ss3984719712, ss3985779912, ss3986072749, ss3986711928, ss5221396001, ss5315872055, ss5426249757, ss5511719104, ss5623969860, ss5624068577, ss5659679031, ss5799969861, ss5833691401, ss5847788109, ss5848440596, ss5936566163, ss5951089370	NC_000017.10:7760703:A:G	NC_000017.11:7857385:A:G	(self)
93192051, 500859699, 1453459, 1132681, 110800275, 244262028, 720208545, ss2215330467, ss3028299974, ss3700042388, ss3771911212, ss3819693229, ss3846486805, ss5028716366, ss5236939465, ss5302349066, ss5495531868, ss5605666116, ss5776963171, ss5816316736, ss5851729587, ss5913139663	NC_000017.11:7857385:A:G	NC_000017.11:7857385:A:G	(self)
ss10869423	NT_010718.13:6599506:A:G	NC_000017.11:7857385:A:G	(self)
ss10513, ss1519609, ss5012814, ss16253193, ss28509314, ss65728080, ss66682066, ss67307191, ss67712457, ss69190686, ss70785836, ss71362639, ss74805902, ss75561717, ss79170118, ss83348552, ss86272181, ss106496192, ss122239892, ss154474079, ss157813454, ss159648566, ss159734503, ss160958129, ss172410554, ss174749803	NT_010718.16:7364077:A:G	NC_000017.11:7857385:A:G	(self)
720208545	NC_000017.11:7857385:A:T	NC_000017.11:7857385: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 rs8522

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

rs8522