Name: rs291314
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.

rs291314

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:10106894 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.405089 (56544/139584, GnomAD)
A=0.44107 (12463/28256, 14KJPN)
A=0.38726 (8155/21058, ALFA) (+ 16 more)
A=0.44356 (7434/16760, 8.3KJPN)
A=0.4410 (2824/6404, 1000G_30x)
A=0.4407 (2207/5008, 1000G)
A=0.3712 (1663/4480, Estonian)
A=0.3041 (1172/3854, ALSPAC)
A=0.3012 (1117/3708, TWINSUK)
G=0.4993 (1463/2930, KOREAN)
G=0.4962 (909/1832, Korea1K)
A=0.324 (323/998, GoNL)
A=0.310 (186/600, NorthernSweden)
A=0.282 (115/408, SGDP_PRJ)
A=0.436 (143/328, HapMap)
A=0.370 (80/216, Qatari)
G=0.394 (85/216, Vietnamese)
A=0.32 (14/44, Siberian)
A=0.28 (11/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PTPRD : 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	21058	A=0.38726	C=0.00000, G=0.61274
European	Sub	18382	A=0.34964	C=0.00000, G=0.65036
African	Sub	1472	A=0.7215	C=0.0000, G=0.2785
African Others	Sub	60	A=0.85	C=0.00, G=0.15
African American	Sub	1412	A=0.7160	C=0.0000, G=0.2840
Asian	Sub	50	A=0.80	C=0.00, G=0.20
East Asian	Sub	36	A=0.75	C=0.00, G=0.25
Other Asian	Sub	14	A=0.93	C=0.00, G=0.07
Latin American 1	Sub	50	A=0.70	C=0.00, G=0.30
Latin American 2	Sub	274	A=0.843	C=0.000, G=0.157
South Asian	Sub	28	A=0.43	C=0.00, G=0.57
Other	Sub	802	A=0.434	C=0.000, G=0.566

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
gnomAD - Genomes	Global	Study-wide	139584	A=0.405089	G=0.594911
gnomAD - Genomes	European	Sub	75642	A=0.32847	G=0.67153
gnomAD - Genomes	African	Sub	41824	A=0.51506	G=0.48494
gnomAD - Genomes	American	Sub	13554	A=0.49063	G=0.50937
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.3040	G=0.6960
gnomAD - Genomes	East Asian	Sub	3106	A=0.5396	G=0.4604
gnomAD - Genomes	Other	Sub	2136	A=0.3839	G=0.6161
14KJPN	JAPANESE	Study-wide	28256	A=0.44107	G=0.55893
Allele Frequency Aggregator	Total	Global	21058	A=0.38726	C=0.00000, G=0.61274
Allele Frequency Aggregator	European	Sub	18382	A=0.34964	C=0.00000, G=0.65036
Allele Frequency Aggregator	African	Sub	1472	A=0.7215	C=0.0000, G=0.2785
Allele Frequency Aggregator	Other	Sub	802	A=0.434	C=0.000, G=0.566
Allele Frequency Aggregator	Latin American 2	Sub	274	A=0.843	C=0.000, G=0.157
Allele Frequency Aggregator	Latin American 1	Sub	50	A=0.70	C=0.00, G=0.30
Allele Frequency Aggregator	Asian	Sub	50	A=0.80	C=0.00, G=0.20
Allele Frequency Aggregator	South Asian	Sub	28	A=0.43	C=0.00, G=0.57
8.3KJPN	JAPANESE	Study-wide	16760	A=0.44356	G=0.55644
1000Genomes_30x	Global	Study-wide	6404	A=0.4410	G=0.5590
1000Genomes_30x	African	Sub	1786	A=0.5274	G=0.4726
1000Genomes_30x	Europe	Sub	1266	A=0.3096	G=0.6904
1000Genomes_30x	South Asian	Sub	1202	A=0.2829	G=0.7171
1000Genomes_30x	East Asian	Sub	1170	A=0.5487	G=0.4513
1000Genomes_30x	American	Sub	980	A=0.518	G=0.482
1000Genomes	Global	Study-wide	5008	A=0.4407	G=0.5593
1000Genomes	African	Sub	1322	A=0.5363	G=0.4637
1000Genomes	East Asian	Sub	1008	A=0.5466	G=0.4534
1000Genomes	Europe	Sub	1006	A=0.3151	G=0.6849
1000Genomes	South Asian	Sub	978	A=0.279	G=0.721
1000Genomes	American	Sub	694	A=0.514	G=0.486
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.3712	G=0.6288
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.3041	G=0.6959
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.3012	G=0.6988
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5007	G=0.4993
Korean Genome Project	KOREAN	Study-wide	1832	A=0.5038	G=0.4962
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.324	G=0.676
Northern Sweden	ACPOP	Study-wide	600	A=0.310	G=0.690
SGDP_PRJ	Global	Study-wide	408	A=0.282	G=0.718
HapMap	Global	Study-wide	328	A=0.436	G=0.564
HapMap	African	Sub	120	A=0.500	G=0.500
HapMap	American	Sub	120	A=0.325	G=0.675
HapMap	Asian	Sub	88	A=0.50	G=0.50
Qatari	Global	Study-wide	216	A=0.370	G=0.630
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.606	G=0.394
Siberian	Global	Study-wide	44	A=0.32	G=0.68
The Danish reference pan genome	Danish	Study-wide	40	A=0.28	G=0.72

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 9	NC_000009.12:g.10106894A>C
GRCh38.p14 chr 9	NC_000009.12:g.10106894A>G
GRCh37.p13 chr 9	NC_000009.11:g.10106894A>C
GRCh37.p13 chr 9	NC_000009.11:g.10106894A>G
PTPRD RefSeqGene	NG_033963.1:g.510830T>G
PTPRD RefSeqGene	NG_033963.1:g.510830T>C

Gene: PTPRD, protein tyrosine phosphatase receptor type D (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTPRD transcript variant 1	NM_002839.4:c.-544-73104T… NM_002839.4:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant 5	NM_001040712.2:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 6	NM_001171025.2:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 7	NM_001377946.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 8	NM_001377947.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 9	NM_001377958.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 10	NM_001378058.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 2	NM_130391.4:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 3	NM_130392.3:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant 4	NM_130393.3:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X7	XM_006716817.5:c.-544-731… XM_006716817.5:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X24	XM_006716823.4:c.-544-731… XM_006716823.4:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X27	XM_006716825.5:c.-544-731… XM_006716825.5:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X40	XM_006716827.5:c.-544-731… XM_006716827.5:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X1	XM_017014958.3:c.-544-731… XM_017014958.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X2	XM_017014961.3:c.-544-731… XM_017014961.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X5	XM_017014963.3:c.-544-731… XM_017014963.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X4	XM_017014964.3:c.-544-731… XM_017014964.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X6	XM_017014965.3:c.-544-731… XM_017014965.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X8	XM_017014966.3:c.-544-731… XM_017014966.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X9	XM_017014967.3:c.-544-731… XM_017014967.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X10	XM_017014968.3:c.-544-731… XM_017014968.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X13	XM_017014969.3:c.-544-731… XM_017014969.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X12	XM_017014970.3:c.-544-731… XM_017014970.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X15	XM_017014971.3:c.-544-731… XM_017014971.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X16	XM_017014972.3:c.-544-731… XM_017014972.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X17	XM_017014974.3:c.-544-731… XM_017014974.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X20	XM_017014976.3:c.-544-731… XM_017014976.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X19	XM_017014977.3:c.-544-731… XM_017014977.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X22	XM_017014978.3:c.-544-731… XM_017014978.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X23	XM_017014979.3:c.-544-731… XM_017014979.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X33	XM_017014980.3:c.-544-731… XM_017014980.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X44	XM_017014982.3:c.-544-731… XM_017014982.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X45	XM_017014983.3:c.-544-731… XM_017014983.3:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X14	XM_024447625.2:c.-544-731… XM_024447625.2:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X3	XM_047423641.1:c.-679-731… XM_047423641.1:c.-679-73104T>G	N/A	Intron Variant
PTPRD transcript variant X11	XM_047423642.1:c.-544-731… XM_047423642.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X21	XM_047423644.1:c.-544-731… XM_047423644.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X25	XM_047423645.1:c.-544-731… XM_047423645.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X28	XM_047423647.1:c.-544-731… XM_047423647.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X30	XM_047423649.1:c.-544-731… XM_047423649.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X31	XM_047423650.1:c.-544-731… XM_047423650.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X32	XM_047423651.1:c.-544-731… XM_047423651.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X34	XM_047423652.1:c.-544-731… XM_047423652.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X35	XM_047423653.1:c.-544-731… XM_047423653.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X36	XM_047423654.1:c.-544-731… XM_047423654.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X39	XM_047423657.1:c.-544-731… XM_047423657.1:c.-544-73104T>G	N/A	Intron Variant
PTPRD transcript variant X18	XM_047423643.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X26	XM_047423646.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X29	XM_047423648.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X37	XM_047423655.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X38	XM_047423656.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X41	XM_047423658.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X42	XM_047423659.1:c.	N/A	Genic Upstream Transcript Variant
PTPRD transcript variant X43	XM_047423660.1:c.	N/A	Genic 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=	C	G
GRCh38.p14 chr 9	NC_000009.12:g.10106894=	NC_000009.12:g.10106894A>C	NC_000009.12:g.10106894A>G
GRCh37.p13 chr 9	NC_000009.11:g.10106894=	NC_000009.11:g.10106894A>C	NC_000009.11:g.10106894A>G
PTPRD RefSeqGene	NG_033963.1:g.510830=	NG_033963.1:g.510830T>G	NG_033963.1:g.510830T>C
PTPRD transcript variant 1	NM_002839.3:c.-544-73104=	NM_002839.3:c.-544-73104T>G	NM_002839.3:c.-544-73104T>C
PTPRD transcript variant 1	NM_002839.4:c.-544-73104=	NM_002839.4:c.-544-73104T>G	NM_002839.4:c.-544-73104T>C
PTPRD transcript variant X1	XM_005251529.1:c.-544-73104=	XM_005251529.1:c.-544-73104T>G	XM_005251529.1:c.-544-73104T>C
PTPRD transcript variant X5	XM_005251533.1:c.-544-73104=	XM_005251533.1:c.-544-73104T>G	XM_005251533.1:c.-544-73104T>C
PTPRD transcript variant X7	XM_006716817.5:c.-544-73104=	XM_006716817.5:c.-544-73104T>G	XM_006716817.5:c.-544-73104T>C
PTPRD transcript variant X24	XM_006716823.4:c.-544-73104=	XM_006716823.4:c.-544-73104T>G	XM_006716823.4:c.-544-73104T>C
PTPRD transcript variant X27	XM_006716825.5:c.-544-73104=	XM_006716825.5:c.-544-73104T>G	XM_006716825.5:c.-544-73104T>C
PTPRD transcript variant X40	XM_006716827.5:c.-544-73104=	XM_006716827.5:c.-544-73104T>G	XM_006716827.5:c.-544-73104T>C
PTPRD transcript variant X1	XM_017014958.3:c.-544-73104=	XM_017014958.3:c.-544-73104T>G	XM_017014958.3:c.-544-73104T>C
PTPRD transcript variant X2	XM_017014961.3:c.-544-73104=	XM_017014961.3:c.-544-73104T>G	XM_017014961.3:c.-544-73104T>C
PTPRD transcript variant X5	XM_017014963.3:c.-544-73104=	XM_017014963.3:c.-544-73104T>G	XM_017014963.3:c.-544-73104T>C
PTPRD transcript variant X4	XM_017014964.3:c.-544-73104=	XM_017014964.3:c.-544-73104T>G	XM_017014964.3:c.-544-73104T>C
PTPRD transcript variant X6	XM_017014965.3:c.-544-73104=	XM_017014965.3:c.-544-73104T>G	XM_017014965.3:c.-544-73104T>C
PTPRD transcript variant X8	XM_017014966.3:c.-544-73104=	XM_017014966.3:c.-544-73104T>G	XM_017014966.3:c.-544-73104T>C
PTPRD transcript variant X9	XM_017014967.3:c.-544-73104=	XM_017014967.3:c.-544-73104T>G	XM_017014967.3:c.-544-73104T>C
PTPRD transcript variant X10	XM_017014968.3:c.-544-73104=	XM_017014968.3:c.-544-73104T>G	XM_017014968.3:c.-544-73104T>C
PTPRD transcript variant X13	XM_017014969.3:c.-544-73104=	XM_017014969.3:c.-544-73104T>G	XM_017014969.3:c.-544-73104T>C
PTPRD transcript variant X12	XM_017014970.3:c.-544-73104=	XM_017014970.3:c.-544-73104T>G	XM_017014970.3:c.-544-73104T>C
PTPRD transcript variant X15	XM_017014971.3:c.-544-73104=	XM_017014971.3:c.-544-73104T>G	XM_017014971.3:c.-544-73104T>C
PTPRD transcript variant X16	XM_017014972.3:c.-544-73104=	XM_017014972.3:c.-544-73104T>G	XM_017014972.3:c.-544-73104T>C
PTPRD transcript variant X17	XM_017014974.3:c.-544-73104=	XM_017014974.3:c.-544-73104T>G	XM_017014974.3:c.-544-73104T>C
PTPRD transcript variant X20	XM_017014976.3:c.-544-73104=	XM_017014976.3:c.-544-73104T>G	XM_017014976.3:c.-544-73104T>C
PTPRD transcript variant X19	XM_017014977.3:c.-544-73104=	XM_017014977.3:c.-544-73104T>G	XM_017014977.3:c.-544-73104T>C
PTPRD transcript variant X22	XM_017014978.3:c.-544-73104=	XM_017014978.3:c.-544-73104T>G	XM_017014978.3:c.-544-73104T>C
PTPRD transcript variant X23	XM_017014979.3:c.-544-73104=	XM_017014979.3:c.-544-73104T>G	XM_017014979.3:c.-544-73104T>C
PTPRD transcript variant X33	XM_017014980.3:c.-544-73104=	XM_017014980.3:c.-544-73104T>G	XM_017014980.3:c.-544-73104T>C
PTPRD transcript variant X44	XM_017014982.3:c.-544-73104=	XM_017014982.3:c.-544-73104T>G	XM_017014982.3:c.-544-73104T>C
PTPRD transcript variant X45	XM_017014983.3:c.-544-73104=	XM_017014983.3:c.-544-73104T>G	XM_017014983.3:c.-544-73104T>C
PTPRD transcript variant X14	XM_024447625.2:c.-544-73104=	XM_024447625.2:c.-544-73104T>G	XM_024447625.2:c.-544-73104T>C
PTPRD transcript variant X3	XM_047423641.1:c.-679-73104=	XM_047423641.1:c.-679-73104T>G	XM_047423641.1:c.-679-73104T>C
PTPRD transcript variant X11	XM_047423642.1:c.-544-73104=	XM_047423642.1:c.-544-73104T>G	XM_047423642.1:c.-544-73104T>C
PTPRD transcript variant X21	XM_047423644.1:c.-544-73104=	XM_047423644.1:c.-544-73104T>G	XM_047423644.1:c.-544-73104T>C
PTPRD transcript variant X25	XM_047423645.1:c.-544-73104=	XM_047423645.1:c.-544-73104T>G	XM_047423645.1:c.-544-73104T>C
PTPRD transcript variant X28	XM_047423647.1:c.-544-73104=	XM_047423647.1:c.-544-73104T>G	XM_047423647.1:c.-544-73104T>C
PTPRD transcript variant X30	XM_047423649.1:c.-544-73104=	XM_047423649.1:c.-544-73104T>G	XM_047423649.1:c.-544-73104T>C
PTPRD transcript variant X31	XM_047423650.1:c.-544-73104=	XM_047423650.1:c.-544-73104T>G	XM_047423650.1:c.-544-73104T>C
PTPRD transcript variant X32	XM_047423651.1:c.-544-73104=	XM_047423651.1:c.-544-73104T>G	XM_047423651.1:c.-544-73104T>C
PTPRD transcript variant X34	XM_047423652.1:c.-544-73104=	XM_047423652.1:c.-544-73104T>G	XM_047423652.1:c.-544-73104T>C
PTPRD transcript variant X35	XM_047423653.1:c.-544-73104=	XM_047423653.1:c.-544-73104T>G	XM_047423653.1:c.-544-73104T>C
PTPRD transcript variant X36	XM_047423654.1:c.-544-73104=	XM_047423654.1:c.-544-73104T>G	XM_047423654.1:c.-544-73104T>C
PTPRD transcript variant X39	XM_047423657.1:c.-544-73104=	XM_047423657.1:c.-544-73104T>G	XM_047423657.1:c.-544-73104T>C

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	KWOK	ss377136	Jul 12, 2000 (79)
2	KWOK	ss381419	Jul 12, 2000 (85)
3	SC_JCM	ss633501	Jul 16, 2000 (87)
4	KWOK	ss1144260	Oct 04, 2000 (86)
5	KWOK	ss1144686	Oct 04, 2000 (86)
6	KWOK	ss1772932	Oct 18, 2000 (87)
7	KWOK	ss1773188	Oct 18, 2000 (87)
8	TSC-CSHL	ss3041277	Jun 15, 2001 (96)
9	TSC-CSHL	ss5221095	Oct 08, 2002 (108)
10	TSC-CSHL	ss5224646	Oct 08, 2002 (108)
11	SC_SNP	ss12923374	Dec 05, 2003 (119)
12	SC_SNP	ss16191263	Feb 27, 2004 (120)
13	ABI	ss43724945	Mar 14, 2006 (126)
14	BGI	ss105660968	Feb 06, 2009 (130)
15	1000GENOMES	ss108586037	Jan 23, 2009 (130)
16	1000GENOMES	ss114138013	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss115688323	Feb 14, 2009 (130)
18	GMI	ss157171554	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss163782079	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss164498987	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss166133964	Jul 04, 2010 (132)
22	BUSHMAN	ss200084912	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss206727460	Jul 04, 2010 (132)
24	1000GENOMES	ss224118404	Jul 14, 2010 (132)
25	1000GENOMES	ss234722863	Jul 15, 2010 (132)
26	1000GENOMES	ss241517840	Jul 15, 2010 (132)
27	BL	ss254043897	May 09, 2011 (134)
28	GMI	ss280102863	May 04, 2012 (137)
29	GMI	ss285967896	Apr 25, 2013 (138)
30	PJP	ss294393557	May 09, 2011 (134)
31	ILLUMINA	ss480648529	May 04, 2012 (137)
32	ILLUMINA	ss485692007	May 04, 2012 (137)
33	ILLUMINA	ss533864093	Sep 08, 2015 (146)
34	TISHKOFF	ss561233142	Apr 25, 2013 (138)
35	SSMP	ss655661313	Apr 25, 2013 (138)
36	ILLUMINA	ss779775413	Sep 08, 2015 (146)
37	ILLUMINA	ss781283352	Sep 08, 2015 (146)
38	ILLUMINA	ss835250965	Sep 08, 2015 (146)
39	EVA-GONL	ss986302840	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1076104747	Aug 21, 2014 (142)
41	1000GENOMES	ss1332866932	Aug 21, 2014 (142)
42	DDI	ss1431747286	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1582983764	Apr 01, 2015 (144)
44	EVA_DECODE	ss1595930323	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1622235385	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1665229418	Apr 01, 2015 (144)
47	HAMMER_LAB	ss1805874875	Sep 08, 2015 (146)
48	WEILL_CORNELL_DGM	ss1929582745	Feb 12, 2016 (147)
49	JJLAB	ss2025501332	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2153729607	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2309330161	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2627226386	Nov 08, 2017 (151)
53	ILLUMINA	ss2634836513	Nov 08, 2017 (151)
54	GRF	ss2709527958	Nov 08, 2017 (151)
55	GNOMAD	ss2875332049	Nov 08, 2017 (151)
56	SWEGEN	ss3004372333	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3026539105	Nov 08, 2017 (151)
58	CSHL	ss3348520013	Nov 08, 2017 (151)
59	ILLUMINA	ss3630212513	Oct 12, 2018 (152)
60	ILLUMINA	ss3632730590	Oct 12, 2018 (152)
61	ILLUMINA	ss3642674125	Oct 12, 2018 (152)
62	URBANLAB	ss3649068207	Oct 12, 2018 (152)
63	EGCUT_WGS	ss3672109180	Jul 13, 2019 (153)
64	EVA_DECODE	ss3723460697	Jul 13, 2019 (153)
65	ACPOP	ss3736302724	Jul 13, 2019 (153)
66	EVA	ss3768905488	Jul 13, 2019 (153)
67	KHV_HUMAN_GENOMES	ss3812063918	Jul 13, 2019 (153)
68	EVA	ss3831532694	Apr 26, 2020 (154)
69	EVA	ss3839280807	Apr 26, 2020 (154)
70	EVA	ss3844742857	Apr 26, 2020 (154)
71	SGDP_PRJ	ss3871503569	Apr 26, 2020 (154)
72	KRGDB	ss3919145353	Apr 26, 2020 (154)
73	KOGIC	ss3965286267	Apr 26, 2020 (154)
74	TOPMED	ss4812268823	Apr 27, 2021 (155)
75	TOPMED	ss4812268824	Apr 27, 2021 (155)
76	TOMMO_GENOMICS	ss5192047093	Apr 27, 2021 (155)
77	1000G_HIGH_COVERAGE	ss5279766829	Oct 17, 2022 (156)
78	EVA	ss5315384059	Oct 17, 2022 (156)
79	EVA	ss5385984749	Oct 17, 2022 (156)
80	HUGCELL_USP	ss5476052617	Oct 17, 2022 (156)
81	EVA	ss5509625880	Oct 17, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5571512615	Oct 17, 2022 (156)
83	SANFORD_IMAGENETICS	ss5646889607	Oct 17, 2022 (156)
84	TOMMO_GENOMICS	ss5735086667	Oct 17, 2022 (156)
85	YY_MCH	ss5810337351	Oct 17, 2022 (156)
86	EVA	ss5828838906	Oct 17, 2022 (156)
87	EVA	ss5856666937	Oct 17, 2022 (156)
88	EVA	ss5915492229	Oct 17, 2022 (156)
89	EVA	ss5976160051	Oct 17, 2022 (156)
90	EVA	ss5980541472	Oct 17, 2022 (156)
91	1000Genomes	NC_000009.11 - 10106894	Oct 12, 2018 (152)
92	1000Genomes_30x	NC_000009.12 - 10106894	Oct 17, 2022 (156)
93	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 10106894	Oct 12, 2018 (152)
94	Genetic variation in the Estonian population	NC_000009.11 - 10106894	Oct 12, 2018 (152)
95	The Danish reference pan genome	NC_000009.11 - 10106894	Apr 26, 2020 (154)
96	gnomAD - Genomes	NC_000009.12 - 10106894	Apr 27, 2021 (155)
97	Genome of the Netherlands Release 5	NC_000009.11 - 10106894	Apr 26, 2020 (154)
98	HapMap	NC_000009.12 - 10106894	Apr 26, 2020 (154)
99	KOREAN population from KRGDB	NC_000009.11 - 10106894	Apr 26, 2020 (154)
100	Korean Genome Project	NC_000009.12 - 10106894	Apr 26, 2020 (154)
101	Northern Sweden	NC_000009.11 - 10106894	Jul 13, 2019 (153)
102	Qatari	NC_000009.11 - 10106894	Apr 26, 2020 (154)
103	SGDP_PRJ	NC_000009.11 - 10106894	Apr 26, 2020 (154)
104	Siberian	NC_000009.11 - 10106894	Apr 26, 2020 (154)
105	8.3KJPN	NC_000009.11 - 10106894	Apr 27, 2021 (155)
106	14KJPN	NC_000009.12 - 10106894	Oct 17, 2022 (156)
107	TopMed Submission ignored due to conflicting rows: Row 649646384 (NC_000009.12:10106893:A:C 2/264690) Row 649646385 (NC_000009.12:10106893:A:G 154495/264690)	-	Apr 27, 2021 (155)
108	TopMed Submission ignored due to conflicting rows: Row 649646384 (NC_000009.12:10106893:A:C 2/264690) Row 649646385 (NC_000009.12:10106893:A:G 154495/264690)	-	Apr 27, 2021 (155)
109	UK 10K study - Twins	NC_000009.11 - 10106894	Oct 12, 2018 (152)
110	A Vietnamese Genetic Variation Database	NC_000009.11 - 10106894	Jul 13, 2019 (153)
111	ALFA	NC_000009.12 - 10106894	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)
rs294874	Sep 19, 2000 (85)
rs466618	Oct 23, 2000 (87)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
12784283614, ss4812268823	NC_000009.12:10106893:A:C	NC_000009.12:10106893:A:C	(self)
ss108586037, ss114138013, ss115688323, ss163782079, ss164498987, ss166133964, ss200084912, ss206727460, ss254043897, ss280102863, ss285967896, ss294393557, ss485692007, ss1595930323	NC_000009.10:10096893:A:G	NC_000009.12:10106893:A:G	(self)
45093994, 25091546, 17847428, 9148701, 11190826, 26322747, 9587589, 11624675, 23520549, 6245961, 50016400, 25091546, 5571778, ss224118404, ss234722863, ss241517840, ss480648529, ss533864093, ss561233142, ss655661313, ss779775413, ss781283352, ss835250965, ss986302840, ss1076104747, ss1332866932, ss1431747286, ss1582983764, ss1622235385, ss1665229418, ss1805874875, ss1929582745, ss2025501332, ss2153729607, ss2627226386, ss2634836513, ss2709527958, ss2875332049, ss3004372333, ss3348520013, ss3630212513, ss3632730590, ss3642674125, ss3672109180, ss3736302724, ss3768905488, ss3831532694, ss3839280807, ss3871503569, ss3919145353, ss5192047093, ss5315384059, ss5385984749, ss5509625880, ss5646889607, ss5828838906, ss5976160051, ss5980541472	NC_000009.11:10106893:A:G	NC_000009.12:10106893:A:G	(self)
59038550, 317860197, 3776483, 21664268, 68923771, 12784283614, ss2309330161, ss3026539105, ss3649068207, ss3723460697, ss3812063918, ss3844742857, ss3965286267, ss4812268824, ss5279766829, ss5476052617, ss5571512615, ss5735086667, ss5810337351, ss5856666937, ss5915492229	NC_000009.12:10106893:A:G	NC_000009.12:10106893:A:G	(self)
ss12923374	NT_008413.15:10096893:A:G	NC_000009.12:10106893:A:G	(self)
ss16191263	NT_008413.16:10096893:A:G	NC_000009.12:10106893:A:G	(self)
ss377136, ss381419, ss633501, ss1144260, ss1144686, ss1772932, ss1773188, ss3041277, ss5221095, ss5224646, ss43724945, ss105660968, ss157171554	NT_008413.18:10096893:A:G	NC_000009.12:10106893:A:G	(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 rs291314

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
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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

rs291314