Name: rs229526
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.

rs229526

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:37185382 (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: G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.217201 (57491/264690, TOPMED)
C=0.221796 (31071/140088, GnomAD)
C=0.19728 (15506/78598, PAGE_STUDY) (+ 24 more)
C=0.21586 (11354/52598, ALFA)
C=0.08182 (2312/28258, 14KJPN)
C=0.08067 (1352/16760, 8.3KJPN)
C=0.23743 (3088/13006, GO-ESP)
C=0.1922 (1231/6404, 1000G_30x)
C=0.1891 (947/5008, 1000G)
C=0.1661 (744/4480, Estonian)
C=0.2314 (892/3854, ALSPAC)
C=0.2233 (828/3708, TWINSUK)
C=0.0854 (250/2928, KOREAN)
C=0.1783 (337/1890, HapMap)
C=0.0857 (157/1832, Korea1K)
C=0.226 (226/998, GoNL)
C=0.108 (85/784, PRJEB37584)
C=0.091 (56/615, Vietnamese)
C=0.197 (118/600, NorthernSweden)
C=0.185 (99/534, MGP)
C=0.172 (52/302, FINRISK)
C=0.185 (40/216, Qatari)
G=0.432 (57/132, SGDP_PRJ)
C=0.33 (18/54, Ancient Sardinia)
C=0.20 (8/40, GENOME_DK)
G=0.50 (7/14, Siberian)
C=0.50 (7/14, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: C1QTNF6 : Missense 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	52598	G=0.78414	C=0.21586
European	Sub	40534	G=0.78603	C=0.21397
African	Sub	3574	G=0.7317	C=0.2683
African Others	Sub	122	G=0.721	C=0.279
African American	Sub	3452	G=0.7320	C=0.2680
Asian	Sub	168	G=0.893	C=0.107
East Asian	Sub	112	G=0.911	C=0.089
Other Asian	Sub	56	G=0.86	C=0.14
Latin American 1	Sub	492	G=0.789	C=0.211
Latin American 2	Sub	626	G=0.872	C=0.128
South Asian	Sub	98	G=0.79	C=0.21
Other	Sub	7106	G=0.7891	C=0.2109

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	G=0.782799	C=0.217201
gnomAD - Genomes	Global	Study-wide	140088	G=0.778204	C=0.221796
gnomAD - Genomes	European	Sub	75856	G=0.78516	C=0.21484
gnomAD - Genomes	African	Sub	41978	G=0.72838	C=0.27162
gnomAD - Genomes	American	Sub	13650	G=0.85766	C=0.14234
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.8032	C=0.1968
gnomAD - Genomes	East Asian	Sub	3130	G=0.8946	C=0.1054
gnomAD - Genomes	Other	Sub	2150	G=0.7930	C=0.2070
The PAGE Study	Global	Study-wide	78598	G=0.80272	C=0.19728
The PAGE Study	AfricanAmerican	Sub	32476	G=0.73131	C=0.26869
The PAGE Study	Mexican	Sub	10788	G=0.88691	C=0.11309
The PAGE Study	Asian	Sub	8310	G=0.9089	C=0.0911
The PAGE Study	PuertoRican	Sub	7904	G=0.7953	C=0.2047
The PAGE Study	NativeHawaiian	Sub	4526	G=0.8849	C=0.1151
The PAGE Study	Cuban	Sub	4228	G=0.7893	C=0.2107
The PAGE Study	Dominican	Sub	3824	G=0.7937	C=0.2063
The PAGE Study	CentralAmerican	Sub	2448	G=0.8775	C=0.1225
The PAGE Study	SouthAmerican	Sub	1978	G=0.8766	C=0.1234
The PAGE Study	NativeAmerican	Sub	1260	G=0.7857	C=0.2143
The PAGE Study	SouthAsian	Sub	856	G=0.801	C=0.199
Allele Frequency Aggregator	Total	Global	52598	G=0.78414	C=0.21586
Allele Frequency Aggregator	European	Sub	40534	G=0.78603	C=0.21397
Allele Frequency Aggregator	Other	Sub	7106	G=0.7891	C=0.2109
Allele Frequency Aggregator	African	Sub	3574	G=0.7317	C=0.2683
Allele Frequency Aggregator	Latin American 2	Sub	626	G=0.872	C=0.128
Allele Frequency Aggregator	Latin American 1	Sub	492	G=0.789	C=0.211
Allele Frequency Aggregator	Asian	Sub	168	G=0.893	C=0.107
Allele Frequency Aggregator	South Asian	Sub	98	G=0.79	C=0.21
14KJPN	JAPANESE	Study-wide	28258	G=0.91818	C=0.08182
8.3KJPN	JAPANESE	Study-wide	16760	G=0.91933	C=0.08067
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.76257	C=0.23743
GO Exome Sequencing Project	European American	Sub	8600	G=0.7769	C=0.2231
GO Exome Sequencing Project	African American	Sub	4406	G=0.7347	C=0.2653
1000Genomes_30x	Global	Study-wide	6404	G=0.8078	C=0.1922
1000Genomes_30x	African	Sub	1786	G=0.7256	C=0.2744
1000Genomes_30x	Europe	Sub	1266	G=0.7867	C=0.2133
1000Genomes_30x	South Asian	Sub	1202	G=0.8278	C=0.1722
1000Genomes_30x	East Asian	Sub	1170	G=0.8949	C=0.1051
1000Genomes_30x	American	Sub	980	G=0.856	C=0.144
1000Genomes	Global	Study-wide	5008	G=0.8109	C=0.1891
1000Genomes	African	Sub	1322	G=0.7231	C=0.2769
1000Genomes	East Asian	Sub	1008	G=0.8929	C=0.1071
1000Genomes	Europe	Sub	1006	G=0.7932	C=0.2068
1000Genomes	South Asian	Sub	978	G=0.826	C=0.174
1000Genomes	American	Sub	694	G=0.863	C=0.137
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8339	C=0.1661
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7686	C=0.2314
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7767	C=0.2233
KOREAN population from KRGDB	KOREAN	Study-wide	2928	G=0.9146	C=0.0854
HapMap	Global	Study-wide	1890	G=0.8217	C=0.1783
HapMap	American	Sub	770	G=0.838	C=0.162
HapMap	African	Sub	692	G=0.766	C=0.234
HapMap	Asian	Sub	254	G=0.925	C=0.075
HapMap	Europe	Sub	174	G=0.822	C=0.178
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9143	C=0.0857
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.774	C=0.226
CNV burdens in cranial meningiomas	Global	Study-wide	784	G=0.892	C=0.108
CNV burdens in cranial meningiomas	CRM	Sub	784	G=0.892	C=0.108
A Vietnamese Genetic Variation Database	Global	Study-wide	615	G=0.909	C=0.091
Northern Sweden	ACPOP	Study-wide	600	G=0.803	C=0.197
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.815	C=0.185
FINRISK	Finnish from FINRISK project	Study-wide	302	G=0.828	C=0.172
Qatari	Global	Study-wide	216	G=0.815	C=0.185
SGDP_PRJ	Global	Study-wide	132	G=0.432	C=0.568
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	G=0.67	C=0.33
The Danish reference pan genome	Danish	Study-wide	40	G=0.80	C=0.20
Siberian	Global	Study-wide	14	G=0.50	C=0.50

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 22	NC_000022.11:g.37185382G>C
GRCh38.p14 chr 22	NC_000022.11:g.37185382G>T
GRCh37.p13 chr 22	NC_000022.10:g.37581422G>C
GRCh37.p13 chr 22	NC_000022.10:g.37581422G>T

Gene: C1QTNF6, C1q and TNF related 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C1QTNF6 transcript variant 3	NM_001365878.1:c.68C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor	NP_001352807.1:p.Pro23Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant 3	NM_001365878.1:c.68C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor	NP_001352807.1:p.Pro23His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant 1	NM_031910.4:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor	NP_114116.3:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant 1	NM_031910.4:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor	NP_114116.3:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant 2	NM_182486.2:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor	NP_872292.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant 2	NM_182486.2:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor	NP_872292.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X1	XM_047441111.1:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297067.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X1	XM_047441111.1:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297067.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X2	XM_017028569.2:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_016884058.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X2	XM_017028569.2:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_016884058.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X3	XM_047441112.1:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X2	XP_047297068.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X3	XM_047441112.1:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X2	XP_047297068.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X4	XM_024452150.2:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_024307918.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X4	XM_024452150.2:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_024307918.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X5	XM_047441113.1:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297069.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X5	XM_047441113.1:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297069.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X6	XM_024452153.2:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_024307921.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X6	XM_024452153.2:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_024307921.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X7	XM_047441114.1:c.125C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297070.1:p.Pro42Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X7	XM_047441114.1:c.125C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297070.1:p.Pro42His	P (Pro) > H (His)	Missense Variant
C1QTNF6 transcript variant X8	XM_011529857.3:c.68C>G	P [CCT] > R [CGT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X3	XP_011528159.1:p.Pro23Arg	P (Pro) > R (Arg)	Missense Variant
C1QTNF6 transcript variant X8	XM_011529857.3:c.68C>A	P [CCT] > H [CAT]	Coding Sequence Variant
complement C1q tumor necrosis factor-related protein 6 isoform X3	XP_011528159.1:p.Pro23His	P (Pro) > H (His)	Missense 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	G=	C	T
GRCh38.p14 chr 22	NC_000022.11:g.37185382=	NC_000022.11:g.37185382G>C	NC_000022.11:g.37185382G>T
GRCh37.p13 chr 22	NC_000022.10:g.37581422=	NC_000022.10:g.37581422G>C	NC_000022.10:g.37581422G>T
C1QTNF6 transcript variant 1	NM_031910.4:c.125=	NM_031910.4:c.125C>G	NM_031910.4:c.125C>A
C1QTNF6 transcript variant 1	NM_031910.3:c.125=	NM_031910.3:c.125C>G	NM_031910.3:c.125C>A
C1QTNF6 transcript variant X8	XM_011529857.3:c.68=	XM_011529857.3:c.68C>G	XM_011529857.3:c.68C>A
C1QTNF6 transcript variant X7	XM_011529857.2:c.68=	XM_011529857.2:c.68C>G	XM_011529857.2:c.68C>A
C1QTNF6 transcript variant X2	XM_011529857.1:c.68=	XM_011529857.1:c.68C>G	XM_011529857.1:c.68C>A
C1QTNF6 transcript variant X2	XM_017028569.2:c.125=	XM_017028569.2:c.125C>G	XM_017028569.2:c.125C>A
C1QTNF6 transcript variant X4	XM_017028569.1:c.125=	XM_017028569.1:c.125C>G	XM_017028569.1:c.125C>A
C1QTNF6 transcript variant X6	XM_024452153.2:c.125=	XM_024452153.2:c.125C>G	XM_024452153.2:c.125C>A
C1QTNF6 transcript variant X5	XM_024452153.1:c.125=	XM_024452153.1:c.125C>G	XM_024452153.1:c.125C>A
C1QTNF6 transcript variant X4	XM_024452150.2:c.125=	XM_024452150.2:c.125C>G	XM_024452150.2:c.125C>A
C1QTNF6 transcript variant X1	XM_024452150.1:c.125=	XM_024452150.1:c.125C>G	XM_024452150.1:c.125C>A
C1QTNF6 transcript variant 2	NM_182486.2:c.125=	NM_182486.2:c.125C>G	NM_182486.2:c.125C>A
C1QTNF6 transcript variant 2	NM_182486.1:c.125=	NM_182486.1:c.125C>G	NM_182486.1:c.125C>A
C1QTNF6 transcript variant X3	XM_047441112.1:c.125=	XM_047441112.1:c.125C>G	XM_047441112.1:c.125C>A
C1QTNF6 transcript variant X1	XM_047441111.1:c.125=	XM_047441111.1:c.125C>G	XM_047441111.1:c.125C>A
C1QTNF6 transcript variant 3	NM_001365878.1:c.68=	NM_001365878.1:c.68C>G	NM_001365878.1:c.68C>A
C1QTNF6 transcript variant X7	XM_047441114.1:c.125=	XM_047441114.1:c.125C>G	XM_047441114.1:c.125C>A
C1QTNF6 transcript variant X5	XM_047441113.1:c.125=	XM_047441113.1:c.125C>G	XM_047441113.1:c.125C>A
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor	NP_114116.3:p.Pro42=	NP_114116.3:p.Pro42Arg	NP_114116.3:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X3	XP_011528159.1:p.Pro23=	XP_011528159.1:p.Pro23Arg	XP_011528159.1:p.Pro23His
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_016884058.1:p.Pro42=	XP_016884058.1:p.Pro42Arg	XP_016884058.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_024307921.1:p.Pro42=	XP_024307921.1:p.Pro42Arg	XP_024307921.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_024307918.1:p.Pro42=	XP_024307918.1:p.Pro42Arg	XP_024307918.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor	NP_872292.1:p.Pro42=	NP_872292.1:p.Pro42Arg	NP_872292.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X2	XP_047297068.1:p.Pro42=	XP_047297068.1:p.Pro42Arg	XP_047297068.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297067.1:p.Pro42=	XP_047297067.1:p.Pro42Arg	XP_047297067.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor	NP_001352807.1:p.Pro23=	NP_001352807.1:p.Pro23Arg	NP_001352807.1:p.Pro23His
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297070.1:p.Pro42=	XP_047297070.1:p.Pro42Arg	XP_047297070.1:p.Pro42His
complement C1q tumor necrosis factor-related protein 6 isoform X1	XP_047297069.1:p.Pro42=	XP_047297069.1:p.Pro42Arg	XP_047297069.1:p.Pro42His

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, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss297052	Jul 12, 2000 (79)
2	KWOK	ss1244496	Oct 04, 2000 (86)
3	KWOK	ss2048851	Oct 18, 2000 (87)
4	SC_JCM	ss3566117	Sep 28, 2001 (100)
5	SC_SNP	ss8296277	Apr 21, 2003 (114)
6	PERLEGEN	ss24601542	Sep 20, 2004 (123)
7	APPLERA_GI	ss48408108	Mar 15, 2006 (126)
8	ILLUMINA	ss65731176	Oct 14, 2006 (127)
9	PERLEGEN	ss69272703	May 17, 2007 (127)
10	AFFY	ss74809253	Aug 16, 2007 (128)
11	ILLUMINA	ss74900567	Dec 06, 2007 (129)
12	AFFY	ss76449405	Dec 06, 2007 (129)
13	SI_EXO	ss76890365	Dec 06, 2007 (129)
14	HGSV	ss85295477	Dec 15, 2007 (130)
15	KRIBB_YJKIM	ss104811888	Feb 05, 2009 (130)
16	1000GENOMES	ss112648036	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss117405744	Feb 14, 2009 (130)
18	SEATTLESEQ	ss159744435	Dec 01, 2009 (131)
19	ILLUMINA	ss160531769	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss167948977	Jul 04, 2010 (132)
21	ILLUMINA	ss173265721	Jul 04, 2010 (132)
22	BUSHMAN	ss204089917	Jul 04, 2010 (132)
23	1000GENOMES	ss228683437	Jul 14, 2010 (132)
24	1000GENOMES	ss238072078	Jul 15, 2010 (132)
25	1000GENOMES	ss244189335	Jul 15, 2010 (132)
26	NHLBI-ESP	ss342542074	May 09, 2011 (134)
27	ILLUMINA	ss480516911	May 04, 2012 (137)
28	ILLUMINA	ss480531112	May 04, 2012 (137)
29	ILLUMINA	ss481341541	Sep 08, 2015 (146)
30	ILLUMINA	ss485055821	May 04, 2012 (137)
31	1000GENOMES	ss491192452	May 04, 2012 (137)
32	EXOME_CHIP	ss491571360	May 04, 2012 (137)
33	CLINSEQ_SNP	ss491824189	May 04, 2012 (137)
34	ILLUMINA	ss536410334	Sep 08, 2015 (146)
35	TISHKOFF	ss566645802	Apr 25, 2013 (138)
36	SSMP	ss662575525	Apr 25, 2013 (138)
37	ILLUMINA	ss778342338	Sep 08, 2015 (146)
38	ILLUMINA	ss782974122	Sep 08, 2015 (146)
39	ILLUMINA	ss783935437	Sep 08, 2015 (146)
40	ILLUMINA	ss832230498	Sep 08, 2015 (146)
41	ILLUMINA	ss833796949	Sep 08, 2015 (146)
42	JMKIDD_LAB	ss974512864	Aug 21, 2014 (142)
43	EVA-GONL	ss995360242	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1067606204	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1082664709	Aug 21, 2014 (142)
46	1000GENOMES	ss1367196251	Aug 21, 2014 (142)
47	DDI	ss1429259177	Apr 01, 2015 (144)
48	EVA_GENOME_DK	ss1579756241	Apr 01, 2015 (144)
49	EVA_FINRISK	ss1584127827	Apr 01, 2015 (144)
50	EVA_UK10K_ALSPAC	ss1640011841	Apr 01, 2015 (144)
51	EVA_UK10K_TWINSUK	ss1683005874	Apr 01, 2015 (144)
52	EVA_EXAC	ss1694334481	Apr 01, 2015 (144)
53	EVA_EXAC	ss1694334482	Apr 01, 2015 (144)
54	EVA_DECODE	ss1699430368	Apr 01, 2015 (144)
55	EVA_MGP	ss1711568958	Apr 01, 2015 (144)
56	EVA_SVP	ss1713741896	Apr 01, 2015 (144)
57	ILLUMINA	ss1752421237	Sep 08, 2015 (146)
58	HAMMER_LAB	ss1809792664	Sep 08, 2015 (146)
59	WEILL_CORNELL_DGM	ss1938926828	Feb 12, 2016 (147)
60	ILLUMINA	ss1946590927	Feb 12, 2016 (147)
61	ILLUMINA	ss1959980245	Feb 12, 2016 (147)
62	JJLAB	ss2030235632	Sep 14, 2016 (149)
63	ILLUMINA	ss2094923648	Dec 20, 2016 (150)
64	ILLUMINA	ss2095123234	Dec 20, 2016 (150)
65	USC_VALOUEV	ss2158854833	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2247394376	Dec 20, 2016 (150)
67	SYSTEMSBIOZJU	ss2629615118	Nov 08, 2017 (151)
68	ILLUMINA	ss2633879540	Nov 08, 2017 (151)
69	GRF	ss2704606834	Nov 08, 2017 (151)
70	ILLUMINA	ss2710958144	Nov 08, 2017 (151)
71	GNOMAD	ss2745122547	Nov 08, 2017 (151)
72	GNOMAD	ss2750550202	Nov 08, 2017 (151)
73	GNOMAD	ss2974470469	Nov 08, 2017 (151)
74	AFFY	ss2985238834	Nov 08, 2017 (151)
75	SWEGEN	ss3019317050	Nov 08, 2017 (151)
76	ILLUMINA	ss3022187057	Nov 08, 2017 (151)
77	BIOINF_KMB_FNS_UNIBA	ss3028955100	Nov 08, 2017 (151)
78	CSHL	ss3352841873	Nov 08, 2017 (151)
79	ILLUMINA	ss3625802928	Oct 12, 2018 (152)
80	ILLUMINA	ss3628536517	Oct 12, 2018 (152)
81	ILLUMINA	ss3631830766	Oct 12, 2018 (152)
82	ILLUMINA	ss3633273623	Oct 12, 2018 (152)
83	ILLUMINA	ss3633989421	Oct 12, 2018 (152)
84	ILLUMINA	ss3634868309	Oct 12, 2018 (152)
85	ILLUMINA	ss3635673859	Oct 12, 2018 (152)
86	ILLUMINA	ss3636564088	Oct 12, 2018 (152)
87	ILLUMINA	ss3637426100	Oct 12, 2018 (152)
88	ILLUMINA	ss3638383321	Oct 12, 2018 (152)
89	ILLUMINA	ss3640575613	Oct 12, 2018 (152)
90	ILLUMINA	ss3643342951	Oct 12, 2018 (152)
91	ILLUMINA	ss3644800608	Oct 12, 2018 (152)
92	OMUKHERJEE_ADBS	ss3646567281	Oct 12, 2018 (152)
93	ILLUMINA	ss3652650645	Oct 12, 2018 (152)
94	ILLUMINA	ss3652650646	Oct 12, 2018 (152)
95	ILLUMINA	ss3654006930	Oct 12, 2018 (152)
96	EGCUT_WGS	ss3685812591	Jul 13, 2019 (153)
97	EVA_DECODE	ss3708217509	Jul 13, 2019 (153)
98	ILLUMINA	ss3725969435	Jul 13, 2019 (153)
99	ACPOP	ss3743941788	Jul 13, 2019 (153)
100	ILLUMINA	ss3744206986	Jul 13, 2019 (153)
101	ILLUMINA	ss3744502888	Jul 13, 2019 (153)
102	ILLUMINA	ss3745168157	Jul 13, 2019 (153)
103	EVA	ss3759393425	Jul 13, 2019 (153)
104	PAGE_CC	ss3772092089	Jul 13, 2019 (153)
105	ILLUMINA	ss3772664055	Jul 13, 2019 (153)
106	KHV_HUMAN_GENOMES	ss3822556107	Jul 13, 2019 (153)
107	EVA	ss3825445162	Apr 27, 2020 (154)
108	EVA	ss3825970667	Apr 27, 2020 (154)
109	EVA	ss3835996587	Apr 27, 2020 (154)
110	EVA	ss3841626554	Apr 27, 2020 (154)
111	EVA	ss3847141633	Apr 27, 2020 (154)
112	SGDP_PRJ	ss3890563656	Apr 27, 2020 (154)
113	KRGDB	ss3940962347	Apr 27, 2020 (154)
114	KOGIC	ss3983655815	Apr 27, 2020 (154)
115	FSA-LAB	ss3984235492	Apr 26, 2021 (155)
116	EVA	ss3984760648	Apr 26, 2021 (155)
117	EVA	ss3985918486	Apr 26, 2021 (155)
118	EVA	ss3986862722	Apr 26, 2021 (155)
119	TOPMED	ss5109485935	Apr 26, 2021 (155)
120	TOMMO_GENOMICS	ss5232663151	Apr 26, 2021 (155)
121	EVA	ss5236991196	Apr 26, 2021 (155)
122	1000G_HIGH_COVERAGE	ss5311129864	Oct 16, 2022 (156)
123	EVA	ss5316057893	Oct 16, 2022 (156)
124	EVA	ss5441355386	Oct 16, 2022 (156)
125	HUGCELL_USP	ss5502969163	Oct 16, 2022 (156)
126	EVA	ss5512383897	Oct 16, 2022 (156)
127	1000G_HIGH_COVERAGE	ss5618698404	Oct 16, 2022 (156)
128	EVA	ss5624122577	Oct 16, 2022 (156)
129	SANFORD_IMAGENETICS	ss5624503440	Oct 16, 2022 (156)
130	SANFORD_IMAGENETICS	ss5664510082	Oct 16, 2022 (156)
131	TOMMO_GENOMICS	ss5793794906	Oct 16, 2022 (156)
132	EVA	ss5800236231	Oct 16, 2022 (156)
133	YY_MCH	ss5818720076	Oct 16, 2022 (156)
134	EVA	ss5822084476	Oct 16, 2022 (156)
135	EVA	ss5847944725	Oct 16, 2022 (156)
136	EVA	ss5848568138	Oct 16, 2022 (156)
137	EVA	ss5853397843	Oct 16, 2022 (156)
138	EVA	ss5881854935	Oct 16, 2022 (156)
139	EVA	ss5936580448	Oct 16, 2022 (156)
140	EVA	ss5959366544	Oct 16, 2022 (156)
141	EVA	ss5981136030	Oct 16, 2022 (156)
142	1000Genomes	NC_000022.10 - 37581422	Oct 12, 2018 (152)
143	1000Genomes_30x	NC_000022.11 - 37185382	Oct 16, 2022 (156)
144	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 37581422	Oct 12, 2018 (152)
145	Genetic variation in the Estonian population	NC_000022.10 - 37581422	Oct 12, 2018 (152)
146	ExAC Submission ignored due to conflicting rows: Row 5914465 (NC_000022.10:37581421:G:G 95855/119798, NC_000022.10:37581421:G:C 23943/119798) Row 5914466 (NC_000022.10:37581421:G:G 119797/119798, NC_000022.10:37581421:G:T 1/119798)	-	Oct 12, 2018 (152)
147	ExAC Submission ignored due to conflicting rows: Row 5914465 (NC_000022.10:37581421:G:G 95855/119798, NC_000022.10:37581421:G:C 23943/119798) Row 5914466 (NC_000022.10:37581421:G:G 119797/119798, NC_000022.10:37581421:G:T 1/119798)	-	Oct 12, 2018 (152)
148	FINRISK	NC_000022.10 - 37581422	Apr 27, 2020 (154)
149	The Danish reference pan genome	NC_000022.10 - 37581422	Apr 27, 2020 (154)
150	gnomAD - Genomes	NC_000022.11 - 37185382	Apr 26, 2021 (155)
151	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14454367 (NC_000022.10:37581421:G:G 202119/250112, NC_000022.10:37581421:G:C 47993/250112) Row 14454368 (NC_000022.10:37581421:G:G 250111/250112, NC_000022.10:37581421:G:T 1/250112)	-	Jul 13, 2019 (153)
152	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14454367 (NC_000022.10:37581421:G:G 202119/250112, NC_000022.10:37581421:G:C 47993/250112) Row 14454368 (NC_000022.10:37581421:G:G 250111/250112, NC_000022.10:37581421:G:T 1/250112)	-	Jul 13, 2019 (153)
153	GO Exome Sequencing Project	NC_000022.10 - 37581422	Oct 12, 2018 (152)
154	Genome of the Netherlands Release 5	NC_000022.10 - 37581422	Apr 27, 2020 (154)
155	HapMap	NC_000022.11 - 37185382	Apr 27, 2020 (154)
156	KOREAN population from KRGDB	NC_000022.10 - 37581422	Apr 27, 2020 (154)
157	Korean Genome Project	NC_000022.11 - 37185382	Apr 27, 2020 (154)
158	Medical Genome Project healthy controls from Spanish population	NC_000022.10 - 37581422	Apr 27, 2020 (154)
159	Northern Sweden	NC_000022.10 - 37581422	Jul 13, 2019 (153)
160	The PAGE Study	NC_000022.11 - 37185382	Jul 13, 2019 (153)
161	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000022.10 - 37581422	Apr 26, 2021 (155)
162	CNV burdens in cranial meningiomas	NC_000022.10 - 37581422	Apr 26, 2021 (155)
163	Qatari	NC_000022.10 - 37581422	Apr 27, 2020 (154)
164	SGDP_PRJ	NC_000022.10 - 37581422	Apr 27, 2020 (154)
165	Siberian	NC_000022.10 - 37581422	Apr 27, 2020 (154)
166	8.3KJPN	NC_000022.10 - 37581422	Apr 26, 2021 (155)
167	14KJPN	NC_000022.11 - 37185382	Oct 16, 2022 (156)
168	TopMed	NC_000022.11 - 37185382	Apr 26, 2021 (155)
169	UK 10K study - Twins	NC_000022.10 - 37581422	Oct 12, 2018 (152)
170	A Vietnamese Genetic Variation Database	NC_000022.10 - 37581422	Jul 13, 2019 (153)
171	ALFA	NC_000022.11 - 37185382	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)
rs17812735	Oct 07, 2004 (123)
rs52834593	Sep 21, 2007 (128)
rs59914011	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85295477	NC_000022.8:35905921:G:C	NC_000022.11:37185381:G:C	(self)
ss76449405, ss112648036, ss117405744, ss167948977, ss204089917, ss480516911, ss491824189, ss1699430368, ss1713741896, ss2094923648, ss3643342951	NC_000022.9:35911367:G:C	NC_000022.11:37185381:G:C	(self)
80749497, 44668071, 31550839, 124288, 5921180, 1901993, 19904472, 48139741, 684718, 17226653, 1144413, 310233, 20968750, 42580636, 11371187, 90632458, 44668071, 9854481, ss228683437, ss238072078, ss244189335, ss342542074, ss480531112, ss481341541, ss485055821, ss491192452, ss491571360, ss536410334, ss566645802, ss662575525, ss778342338, ss782974122, ss783935437, ss832230498, ss833796949, ss974512864, ss995360242, ss1067606204, ss1082664709, ss1367196251, ss1429259177, ss1579756241, ss1584127827, ss1640011841, ss1683005874, ss1694334481, ss1711568958, ss1752421237, ss1809792664, ss1938926828, ss1946590927, ss1959980245, ss2030235632, ss2095123234, ss2158854833, ss2629615118, ss2633879540, ss2704606834, ss2710958144, ss2745122547, ss2750550202, ss2974470469, ss2985238834, ss3019317050, ss3022187057, ss3352841873, ss3625802928, ss3628536517, ss3631830766, ss3633273623, ss3633989421, ss3634868309, ss3635673859, ss3636564088, ss3637426100, ss3638383321, ss3640575613, ss3644800608, ss3646567281, ss3652650645, ss3652650646, ss3654006930, ss3685812591, ss3743941788, ss3744206986, ss3744502888, ss3745168157, ss3759393425, ss3772664055, ss3825445162, ss3825970667, ss3835996587, ss3841626554, ss3890563656, ss3940962347, ss3984235492, ss3984760648, ss3985918486, ss3986862722, ss5232663151, ss5316057893, ss5441355386, ss5512383897, ss5624122577, ss5624503440, ss5664510082, ss5800236231, ss5822084476, ss5847944725, ss5848568138, ss5936580448, ss5959366544, ss5981136030	NC_000022.10:37581421:G:C	NC_000022.11:37185381:G:C	(self)
106224339, 570197845, 2257667, 40033816, 1313558, 127632010, 384594882, 6913032655, ss2247394376, ss3028955100, ss3708217509, ss3725969435, ss3772092089, ss3822556107, ss3847141633, ss3983655815, ss5109485935, ss5236991196, ss5311129864, ss5502969163, ss5618698404, ss5793794906, ss5818720076, ss5853397843, ss5881854935	NC_000022.11:37185381:G:C	NC_000022.11:37185381:G:C	(self)
ss76890365	NT_011520.11:16971936:G:C	NC_000022.11:37185381:G:C	(self)
ss297052, ss1244496, ss2048851, ss3566117, ss8296277, ss24601542, ss48408108, ss65731176, ss69272703, ss74809253, ss74900567, ss104811888, ss159744435, ss160531769, ss173265721	NT_011520.12:16971990:G:C	NC_000022.11:37185381:G:C	(self)
ss1694334482, ss2745122547	NC_000022.10:37581421:G:T	NC_000022.11:37185381:G: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 rs229526

PMID	Title	Author	Year	Journal
34868058	A Model of Minor Histocompatibility Antigens in Allogeneic Hematopoietic Cell Transplantation.	Martin PJ et al.	2021	Frontiers in immunology

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

rs229526