Name: rs911693
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.

rs911693

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:10213093 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.132449 (35058/264690, TOPMED)
C=0.140331 (19657/140076, GnomAD)
C=0.08957 (2531/28258, 14KJPN) (+ 16 more)
C=0.13607 (2412/17726, ALFA)
C=0.08687 (1456/16760, 8.3KJPN)
C=0.1135 (727/6404, 1000G_30x)
C=0.1130 (566/5008, 1000G)
C=0.1326 (594/4480, Estonian)
C=0.1427 (550/3854, ALSPAC)
C=0.1383 (513/3708, TWINSUK)
C=0.0860 (252/2930, KOREAN)
C=0.133 (133/998, GoNL)
C=0.172 (103/600, NorthernSweden)
C=0.088 (49/558, SGDP_PRJ)
C=0.143 (47/328, HapMap)
C=0.120 (26/216, Qatari)
C=0.079 (17/216, Vietnamese)
C=0.07 (4/56, Siberian)
C=0.07 (3/40, 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	17726	C=0.13607	G=0.86393, T=0.00000
European	Sub	13636	C=0.13662	G=0.86338, T=0.00000
African	Sub	2436	C=0.1572	G=0.8428, T=0.0000
African Others	Sub	90	C=0.26	G=0.74, T=0.00
African American	Sub	2346	C=0.1535	G=0.8465, T=0.0000
Asian	Sub	112	C=0.098	G=0.902, T=0.000
East Asian	Sub	86	C=0.09	G=0.91, T=0.00
Other Asian	Sub	26	C=0.12	G=0.88, T=0.00
Latin American 1	Sub	146	C=0.075	G=0.925, T=0.000
Latin American 2	Sub	610	C=0.051	G=0.949, T=0.000
South Asian	Sub	98	C=0.08	G=0.92, T=0.00
Other	Sub	688	C=0.153	G=0.847, T=0.000

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	C=0.132449	G=0.867551
gnomAD - Genomes	Global	Study-wide	140076	C=0.140331	G=0.859669
gnomAD - Genomes	European	Sub	75890	C=0.14351	G=0.85649
gnomAD - Genomes	African	Sub	41968	C=0.16048	G=0.83952
gnomAD - Genomes	American	Sub	13632	C=0.08150	G=0.91850
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.1128	G=0.8872
gnomAD - Genomes	East Asian	Sub	3118	C=0.0850	G=0.9150
gnomAD - Genomes	Other	Sub	2144	C=0.1306	G=0.8694
14KJPN	JAPANESE	Study-wide	28258	C=0.08957	G=0.91043
Allele Frequency Aggregator	Total	Global	17726	C=0.13607	G=0.86393, T=0.00000
Allele Frequency Aggregator	European	Sub	13636	C=0.13662	G=0.86338, T=0.00000
Allele Frequency Aggregator	African	Sub	2436	C=0.1572	G=0.8428, T=0.0000
Allele Frequency Aggregator	Other	Sub	688	C=0.153	G=0.847, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.051	G=0.949, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.075	G=0.925, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	C=0.098	G=0.902, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.08	G=0.92, T=0.00
8.3KJPN	JAPANESE	Study-wide	16760	C=0.08687	G=0.91313
1000Genomes_30x	Global	Study-wide	6404	C=0.1135	G=0.8865
1000Genomes_30x	African	Sub	1786	C=0.1551	G=0.8449
1000Genomes_30x	Europe	Sub	1266	C=0.1406	G=0.8594
1000Genomes_30x	South Asian	Sub	1202	C=0.0973	G=0.9027
1000Genomes_30x	East Asian	Sub	1170	C=0.0675	G=0.9325
1000Genomes_30x	American	Sub	980	C=0.078	G=0.922
1000Genomes	Global	Study-wide	5008	C=0.1130	G=0.8870
1000Genomes	African	Sub	1322	C=0.1558	G=0.8442
1000Genomes	East Asian	Sub	1008	C=0.0645	G=0.9355
1000Genomes	Europe	Sub	1006	C=0.1362	G=0.8638
1000Genomes	South Asian	Sub	978	C=0.104	G=0.896
1000Genomes	American	Sub	694	C=0.081	G=0.919
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.1326	G=0.8674
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.1427	G=0.8573
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.1383	G=0.8617
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.0860	A=0.0000, G=0.9140, T=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.133	G=0.867
Northern Sweden	ACPOP	Study-wide	600	C=0.172	G=0.828
SGDP_PRJ	Global	Study-wide	558	C=0.088	G=0.912
HapMap	Global	Study-wide	328	C=0.143	G=0.857
HapMap	African	Sub	120	C=0.158	G=0.842
HapMap	American	Sub	120	C=0.192	G=0.808
HapMap	Asian	Sub	88	C=0.06	G=0.94
Qatari	Global	Study-wide	216	C=0.120	G=0.880
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.079	G=0.921
Siberian	Global	Study-wide	56	C=0.07	G=0.93
The Danish reference pan genome	Danish	Study-wide	40	C=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 9	NC_000009.12:g.10213093C>A
GRCh38.p14 chr 9	NC_000009.12:g.10213093C>G
GRCh38.p14 chr 9	NC_000009.12:g.10213093C>T
GRCh37.p13 chr 9	NC_000009.11:g.10213093C>A
GRCh37.p13 chr 9	NC_000009.11:g.10213093C>G
GRCh37.p13 chr 9	NC_000009.11:g.10213093C>T
PTPRD RefSeqGene	NG_033963.1:g.404631G>T
PTPRD RefSeqGene	NG_033963.1:g.404631G>C
PTPRD RefSeqGene	NG_033963.1:g.404631G>A

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.-545+127870… NM_002839.4:c.-545+127870G>T	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.-545+127… XM_006716817.5:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X24	XM_006716823.4:c.-545+127… XM_006716823.4:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X27	XM_006716825.5:c.-545+127… XM_006716825.5:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X40	XM_006716827.5:c.-545+127… XM_006716827.5:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X1	XM_017014958.3:c.-545+127… XM_017014958.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X2	XM_017014961.3:c.-544-179… XM_017014961.3:c.-544-179303G>T	N/A	Intron Variant
PTPRD transcript variant X5	XM_017014963.3:c.-545+127… XM_017014963.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X4	XM_017014964.3:c.-545+127… XM_017014964.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X6	XM_017014965.3:c.-545+127… XM_017014965.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X8	XM_017014966.3:c.-545+127… XM_017014966.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X9	XM_017014967.3:c.-545+127… XM_017014967.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X10	XM_017014968.3:c.-545+127… XM_017014968.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X13	XM_017014969.3:c.-545+127… XM_017014969.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X12	XM_017014970.3:c.-545+127… XM_017014970.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X15	XM_017014971.3:c.-545+127… XM_017014971.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X16	XM_017014972.3:c.-545+127… XM_017014972.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X17	XM_017014974.3:c.-545+127… XM_017014974.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X20	XM_017014976.3:c.-545+127… XM_017014976.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X19	XM_017014977.3:c.-545+127… XM_017014977.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X22	XM_017014978.3:c.-545+127… XM_017014978.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X23	XM_017014979.3:c.-545+127… XM_017014979.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X33	XM_017014980.3:c.-545+127… XM_017014980.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X44	XM_017014982.3:c.-545+127… XM_017014982.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X45	XM_017014983.3:c.-545+127… XM_017014983.3:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X14	XM_024447625.2:c.-545+127… XM_024447625.2:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X3	XM_047423641.1:c.-680+127… XM_047423641.1:c.-680+127870G>T	N/A	Intron Variant
PTPRD transcript variant X11	XM_047423642.1:c.-545+127… XM_047423642.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X21	XM_047423644.1:c.-545+127… XM_047423644.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X25	XM_047423645.1:c.-545+127… XM_047423645.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X28	XM_047423647.1:c.-545+127… XM_047423647.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X30	XM_047423649.1:c.-545+127… XM_047423649.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X31	XM_047423650.1:c.-545+127… XM_047423650.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X32	XM_047423651.1:c.-545+127… XM_047423651.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X34	XM_047423652.1:c.-545+127… XM_047423652.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X35	XM_047423653.1:c.-545+127… XM_047423653.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X36	XM_047423654.1:c.-545+127… XM_047423654.1:c.-545+127870G>T	N/A	Intron Variant
PTPRD transcript variant X39	XM_047423657.1:c.-545+127… XM_047423657.1:c.-545+127870G>T	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	C=	A	G	T
GRCh38.p14 chr 9	NC_000009.12:g.10213093=	NC_000009.12:g.10213093C>A	NC_000009.12:g.10213093C>G	NC_000009.12:g.10213093C>T
GRCh37.p13 chr 9	NC_000009.11:g.10213093=	NC_000009.11:g.10213093C>A	NC_000009.11:g.10213093C>G	NC_000009.11:g.10213093C>T
PTPRD RefSeqGene	NG_033963.1:g.404631=	NG_033963.1:g.404631G>T	NG_033963.1:g.404631G>C	NG_033963.1:g.404631G>A
PTPRD transcript variant 1	NM_002839.3:c.-545+127870=	NM_002839.3:c.-545+127870G>T	NM_002839.3:c.-545+127870G>C	NM_002839.3:c.-545+127870G>A
PTPRD transcript variant 1	NM_002839.4:c.-545+127870=	NM_002839.4:c.-545+127870G>T	NM_002839.4:c.-545+127870G>C	NM_002839.4:c.-545+127870G>A
PTPRD transcript variant X1	XM_005251529.1:c.-545+127870=	XM_005251529.1:c.-545+127870G>T	XM_005251529.1:c.-545+127870G>C	XM_005251529.1:c.-545+127870G>A
PTPRD transcript variant X5	XM_005251533.1:c.-545+127870=	XM_005251533.1:c.-545+127870G>T	XM_005251533.1:c.-545+127870G>C	XM_005251533.1:c.-545+127870G>A
PTPRD transcript variant X7	XM_006716817.5:c.-545+127870=	XM_006716817.5:c.-545+127870G>T	XM_006716817.5:c.-545+127870G>C	XM_006716817.5:c.-545+127870G>A
PTPRD transcript variant X24	XM_006716823.4:c.-545+127870=	XM_006716823.4:c.-545+127870G>T	XM_006716823.4:c.-545+127870G>C	XM_006716823.4:c.-545+127870G>A
PTPRD transcript variant X27	XM_006716825.5:c.-545+127870=	XM_006716825.5:c.-545+127870G>T	XM_006716825.5:c.-545+127870G>C	XM_006716825.5:c.-545+127870G>A
PTPRD transcript variant X40	XM_006716827.5:c.-545+127870=	XM_006716827.5:c.-545+127870G>T	XM_006716827.5:c.-545+127870G>C	XM_006716827.5:c.-545+127870G>A
PTPRD transcript variant X1	XM_017014958.3:c.-545+127870=	XM_017014958.3:c.-545+127870G>T	XM_017014958.3:c.-545+127870G>C	XM_017014958.3:c.-545+127870G>A
PTPRD transcript variant X2	XM_017014961.3:c.-544-179303=	XM_017014961.3:c.-544-179303G>T	XM_017014961.3:c.-544-179303G>C	XM_017014961.3:c.-544-179303G>A
PTPRD transcript variant X5	XM_017014963.3:c.-545+127870=	XM_017014963.3:c.-545+127870G>T	XM_017014963.3:c.-545+127870G>C	XM_017014963.3:c.-545+127870G>A
PTPRD transcript variant X4	XM_017014964.3:c.-545+127870=	XM_017014964.3:c.-545+127870G>T	XM_017014964.3:c.-545+127870G>C	XM_017014964.3:c.-545+127870G>A
PTPRD transcript variant X6	XM_017014965.3:c.-545+127870=	XM_017014965.3:c.-545+127870G>T	XM_017014965.3:c.-545+127870G>C	XM_017014965.3:c.-545+127870G>A
PTPRD transcript variant X8	XM_017014966.3:c.-545+127870=	XM_017014966.3:c.-545+127870G>T	XM_017014966.3:c.-545+127870G>C	XM_017014966.3:c.-545+127870G>A
PTPRD transcript variant X9	XM_017014967.3:c.-545+127870=	XM_017014967.3:c.-545+127870G>T	XM_017014967.3:c.-545+127870G>C	XM_017014967.3:c.-545+127870G>A
PTPRD transcript variant X10	XM_017014968.3:c.-545+127870=	XM_017014968.3:c.-545+127870G>T	XM_017014968.3:c.-545+127870G>C	XM_017014968.3:c.-545+127870G>A
PTPRD transcript variant X13	XM_017014969.3:c.-545+127870=	XM_017014969.3:c.-545+127870G>T	XM_017014969.3:c.-545+127870G>C	XM_017014969.3:c.-545+127870G>A
PTPRD transcript variant X12	XM_017014970.3:c.-545+127870=	XM_017014970.3:c.-545+127870G>T	XM_017014970.3:c.-545+127870G>C	XM_017014970.3:c.-545+127870G>A
PTPRD transcript variant X15	XM_017014971.3:c.-545+127870=	XM_017014971.3:c.-545+127870G>T	XM_017014971.3:c.-545+127870G>C	XM_017014971.3:c.-545+127870G>A
PTPRD transcript variant X16	XM_017014972.3:c.-545+127870=	XM_017014972.3:c.-545+127870G>T	XM_017014972.3:c.-545+127870G>C	XM_017014972.3:c.-545+127870G>A
PTPRD transcript variant X17	XM_017014974.3:c.-545+127870=	XM_017014974.3:c.-545+127870G>T	XM_017014974.3:c.-545+127870G>C	XM_017014974.3:c.-545+127870G>A
PTPRD transcript variant X20	XM_017014976.3:c.-545+127870=	XM_017014976.3:c.-545+127870G>T	XM_017014976.3:c.-545+127870G>C	XM_017014976.3:c.-545+127870G>A
PTPRD transcript variant X19	XM_017014977.3:c.-545+127870=	XM_017014977.3:c.-545+127870G>T	XM_017014977.3:c.-545+127870G>C	XM_017014977.3:c.-545+127870G>A
PTPRD transcript variant X22	XM_017014978.3:c.-545+127870=	XM_017014978.3:c.-545+127870G>T	XM_017014978.3:c.-545+127870G>C	XM_017014978.3:c.-545+127870G>A
PTPRD transcript variant X23	XM_017014979.3:c.-545+127870=	XM_017014979.3:c.-545+127870G>T	XM_017014979.3:c.-545+127870G>C	XM_017014979.3:c.-545+127870G>A
PTPRD transcript variant X33	XM_017014980.3:c.-545+127870=	XM_017014980.3:c.-545+127870G>T	XM_017014980.3:c.-545+127870G>C	XM_017014980.3:c.-545+127870G>A
PTPRD transcript variant X44	XM_017014982.3:c.-545+127870=	XM_017014982.3:c.-545+127870G>T	XM_017014982.3:c.-545+127870G>C	XM_017014982.3:c.-545+127870G>A
PTPRD transcript variant X45	XM_017014983.3:c.-545+127870=	XM_017014983.3:c.-545+127870G>T	XM_017014983.3:c.-545+127870G>C	XM_017014983.3:c.-545+127870G>A
PTPRD transcript variant X14	XM_024447625.2:c.-545+127870=	XM_024447625.2:c.-545+127870G>T	XM_024447625.2:c.-545+127870G>C	XM_024447625.2:c.-545+127870G>A
PTPRD transcript variant X3	XM_047423641.1:c.-680+127870=	XM_047423641.1:c.-680+127870G>T	XM_047423641.1:c.-680+127870G>C	XM_047423641.1:c.-680+127870G>A
PTPRD transcript variant X11	XM_047423642.1:c.-545+127870=	XM_047423642.1:c.-545+127870G>T	XM_047423642.1:c.-545+127870G>C	XM_047423642.1:c.-545+127870G>A
PTPRD transcript variant X21	XM_047423644.1:c.-545+127870=	XM_047423644.1:c.-545+127870G>T	XM_047423644.1:c.-545+127870G>C	XM_047423644.1:c.-545+127870G>A
PTPRD transcript variant X25	XM_047423645.1:c.-545+127870=	XM_047423645.1:c.-545+127870G>T	XM_047423645.1:c.-545+127870G>C	XM_047423645.1:c.-545+127870G>A
PTPRD transcript variant X28	XM_047423647.1:c.-545+127870=	XM_047423647.1:c.-545+127870G>T	XM_047423647.1:c.-545+127870G>C	XM_047423647.1:c.-545+127870G>A
PTPRD transcript variant X30	XM_047423649.1:c.-545+127870=	XM_047423649.1:c.-545+127870G>T	XM_047423649.1:c.-545+127870G>C	XM_047423649.1:c.-545+127870G>A
PTPRD transcript variant X31	XM_047423650.1:c.-545+127870=	XM_047423650.1:c.-545+127870G>T	XM_047423650.1:c.-545+127870G>C	XM_047423650.1:c.-545+127870G>A
PTPRD transcript variant X32	XM_047423651.1:c.-545+127870=	XM_047423651.1:c.-545+127870G>T	XM_047423651.1:c.-545+127870G>C	XM_047423651.1:c.-545+127870G>A
PTPRD transcript variant X34	XM_047423652.1:c.-545+127870=	XM_047423652.1:c.-545+127870G>T	XM_047423652.1:c.-545+127870G>C	XM_047423652.1:c.-545+127870G>A
PTPRD transcript variant X35	XM_047423653.1:c.-545+127870=	XM_047423653.1:c.-545+127870G>T	XM_047423653.1:c.-545+127870G>C	XM_047423653.1:c.-545+127870G>A
PTPRD transcript variant X36	XM_047423654.1:c.-545+127870=	XM_047423654.1:c.-545+127870G>T	XM_047423654.1:c.-545+127870G>C	XM_047423654.1:c.-545+127870G>A
PTPRD transcript variant X39	XM_047423657.1:c.-545+127870=	XM_047423657.1:c.-545+127870G>T	XM_047423657.1:c.-545+127870G>C	XM_047423657.1:c.-545+127870G>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#.

79 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1346023	Oct 05, 2000 (86)
2	SC_JCM	ss3505034	Sep 28, 2001 (100)
3	WI_SSAHASNP	ss11999103	Jul 11, 2003 (116)
4	SC_SNP	ss12923400	Dec 05, 2003 (119)
5	SC_SNP	ss15691378	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss18025118	Feb 27, 2004 (120)
7	SSAHASNP	ss22865816	Apr 05, 2004 (121)
8	ABI	ss43903446	Mar 14, 2006 (126)
9	BCMHGSC_JDW	ss94008882	Mar 25, 2008 (129)
10	HUMANGENOME_JCVI	ss97705576	Feb 05, 2009 (130)
11	BGI	ss105661039	Feb 05, 2009 (130)
12	1000GENOMES	ss108587282	Jan 23, 2009 (130)
13	1000GENOMES	ss114139729	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss115688452	Feb 14, 2009 (130)
15	ENSEMBL	ss142588839	Dec 01, 2009 (131)
16	ENSEMBL	ss143939552	Dec 01, 2009 (131)
17	GMI	ss157172374	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss163783508	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss164501812	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss166135585	Jul 04, 2010 (132)
21	BUSHMAN	ss200085980	Jul 04, 2010 (132)
22	BCM-HGSC-SUB	ss206665641	Jul 04, 2010 (132)
23	1000GENOMES	ss224118959	Jul 14, 2010 (132)
24	1000GENOMES	ss234723321	Jul 15, 2010 (132)
25	1000GENOMES	ss241518172	Jul 15, 2010 (132)
26	BL	ss254044188	May 09, 2011 (134)
27	GMI	ss280103277	May 04, 2012 (137)
28	GMI	ss285968095	Apr 25, 2013 (138)
29	PJP	ss294393711	May 09, 2011 (134)
30	TISHKOFF	ss561233708	Apr 25, 2013 (138)
31	SSMP	ss655662116	Apr 25, 2013 (138)
32	EVA-GONL	ss986303947	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1076105619	Aug 21, 2014 (142)
34	1000GENOMES	ss1332871070	Aug 21, 2014 (142)
35	DDI	ss1431747613	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1582984193	Apr 01, 2015 (144)
37	EVA_DECODE	ss1595931453	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1622237422	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1665231455	Apr 01, 2015 (144)
40	HAMMER_LAB	ss1805875306	Sep 08, 2015 (146)
41	WEILL_CORNELL_DGM	ss1929583863	Feb 12, 2016 (147)
42	GENOMED	ss1971153475	Jul 19, 2016 (147)
43	JJLAB	ss2025501964	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2153730188	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2309338883	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2627226652	Nov 08, 2017 (151)
47	GRF	ss2709528561	Nov 08, 2017 (151)
48	GNOMAD	ss2875343808	Nov 08, 2017 (151)
49	SWEGEN	ss3004373981	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3026539422	Nov 08, 2017 (151)
51	CSHL	ss3348520581	Nov 08, 2017 (151)
52	URBANLAB	ss3649068411	Oct 12, 2018 (152)
53	EGCUT_WGS	ss3672110968	Jul 13, 2019 (153)
54	EVA_DECODE	ss3723462736	Jul 13, 2019 (153)
55	ACPOP	ss3736303726	Jul 13, 2019 (153)
56	EVA	ss3768906741	Jul 13, 2019 (153)
57	PACBIO	ss3786345245	Jul 13, 2019 (153)
58	PACBIO	ss3791571149	Jul 13, 2019 (153)
59	PACBIO	ss3796452809	Jul 13, 2019 (153)
60	KHV_HUMAN_GENOMES	ss3812065304	Jul 13, 2019 (153)
61	EVA	ss3831533294	Apr 26, 2020 (154)
62	EVA	ss3839281233	Apr 26, 2020 (154)
63	EVA	ss3844743286	Apr 26, 2020 (154)
64	SGDP_PRJ	ss3871505846	Apr 26, 2020 (154)
65	KRGDB	ss3919147880	Apr 26, 2020 (154)
66	TOPMED	ss4812305193	Apr 27, 2021 (155)
67	TOMMO_GENOMICS	ss5192051937	Apr 27, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5279770615	Oct 17, 2022 (156)
69	EVA	ss5385991020	Oct 17, 2022 (156)
70	HUGCELL_USP	ss5476055957	Oct 17, 2022 (156)
71	EVA	ss5509626270	Oct 17, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5571518221	Oct 17, 2022 (156)
73	SANFORD_IMAGENETICS	ss5646891843	Oct 17, 2022 (156)
74	TOMMO_GENOMICS	ss5735092771	Oct 17, 2022 (156)
75	YY_MCH	ss5810338334	Oct 17, 2022 (156)
76	EVA	ss5828840308	Oct 17, 2022 (156)
77	EVA	ss5856667372	Oct 17, 2022 (156)
78	EVA	ss5915496206	Oct 17, 2022 (156)
79	EVA	ss5976162199	Oct 17, 2022 (156)
80	1000Genomes	NC_000009.11 - 10213093	Oct 12, 2018 (152)
81	1000Genomes_30x	NC_000009.12 - 10213093	Oct 17, 2022 (156)
82	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 10213093	Oct 12, 2018 (152)
83	Genetic variation in the Estonian population	NC_000009.11 - 10213093	Oct 12, 2018 (152)
84	The Danish reference pan genome	NC_000009.11 - 10213093	Apr 26, 2020 (154)
85	gnomAD - Genomes	NC_000009.12 - 10213093	Apr 27, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000009.11 - 10213093	Apr 26, 2020 (154)
87	HapMap	NC_000009.12 - 10213093	Apr 26, 2020 (154)
88	KOREAN population from KRGDB	NC_000009.11 - 10213093	Apr 26, 2020 (154)
89	Northern Sweden	NC_000009.11 - 10213093	Jul 13, 2019 (153)
90	Qatari	NC_000009.11 - 10213093	Apr 26, 2020 (154)
91	SGDP_PRJ	NC_000009.11 - 10213093	Apr 26, 2020 (154)
92	Siberian	NC_000009.11 - 10213093	Apr 26, 2020 (154)
93	8.3KJPN	NC_000009.11 - 10213093	Apr 27, 2021 (155)
94	14KJPN	NC_000009.12 - 10213093	Oct 17, 2022 (156)
95	TopMed	NC_000009.12 - 10213093	Apr 27, 2021 (155)
96	UK 10K study - Twins	NC_000009.11 - 10213093	Oct 12, 2018 (152)
97	A Vietnamese Genetic Variation Database	NC_000009.11 - 10213093	Jul 13, 2019 (153)
98	ALFA	NC_000009.12 - 10213093	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
26325274, ss3919147880	NC_000009.11:10213092:C:A	NC_000009.12:10213092:C:A	(self)
ss94008882, ss108587282, ss114139729, ss115688452, ss163783508, ss164501812, ss166135585, ss200085980, ss206665641, ss254044188, ss280103277, ss285968095, ss294393711, ss1595931453	NC_000009.10:10203092:C:G	NC_000009.12:10213092:C:G	(self)
45098272, 25093758, 17849216, 9149130, 11191899, 26325274, 9588591, 11625793, 23522826, 6246542, 50021244, 25093758, 5572376, ss224118959, ss234723321, ss241518172, ss561233708, ss655662116, ss986303947, ss1076105619, ss1332871070, ss1431747613, ss1582984193, ss1622237422, ss1665231455, ss1805875306, ss1929583863, ss1971153475, ss2025501964, ss2153730188, ss2627226652, ss2709528561, ss2875343808, ss3004373981, ss3348520581, ss3672110968, ss3736303726, ss3768906741, ss3786345245, ss3791571149, ss3796452809, ss3831533294, ss3839281233, ss3871505846, ss3919147880, ss5192051937, ss5385991020, ss5509626270, ss5646891843, ss5828840308, ss5976162199	NC_000009.11:10213092:C:G	NC_000009.12:10213092:C:G	(self)
59044156, 317890751, 3776711, 68929875, 649682754, 11914717811, ss2309338883, ss3026539422, ss3649068411, ss3723462736, ss3812065304, ss3844743286, ss4812305193, ss5279770615, ss5476055957, ss5571518221, ss5735092771, ss5810338334, ss5856667372, ss5915496206	NC_000009.12:10213092:C:G	NC_000009.12:10213092:C:G	(self)
ss11999103, ss12923400	NT_008413.15:10203092:C:G	NC_000009.12:10213092:C:G	(self)
ss15691378, ss18025118, ss22865816	NT_008413.16:10203092:C:G	NC_000009.12:10213092:C:G	(self)
ss1346023, ss3505034, ss43903446, ss97705576, ss105661039, ss142588839, ss143939552, ss157172374	NT_008413.18:10203092:C:G	NC_000009.12:10213092:C:G	(self)
26325274, ss3919147880	NC_000009.11:10213092:C:T	NC_000009.12:10213092:C:T	(self)
11914717811	NC_000009.12:10213092:C:T	NC_000009.12:10213092:C: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 rs911693

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs911693