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dbSNP Short Genetic Variations

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.

rs1486985445

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:8857626 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00000 (0/14050, ALFA)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PTPRD : Intron Variant
PTPRD-AS1 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 A=0.00000, T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 A=0.0000, T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 A=0.00, T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 A=0.000, T=0.000 1.0 0.0 0.0 N/A


Help

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 14050 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
Help

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.8857626C>A
GRCh38.p14 chr 9 NC_000009.12:g.8857626C>T
GRCh37.p13 chr 9 NC_000009.11:g.8857626C>A
GRCh37.p13 chr 9 NC_000009.11:g.8857626C>T
PTPRD RefSeqGene NG_033963.1:g.1760098G>T
PTPRD RefSeqGene NG_033963.1:g.1760098G>A
Gene: PTPRD, protein tyrosine phosphatase receptor type D (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PTPRD transcript variant 6 NM_001171025.2:c.-104+12G…

NM_001171025.2:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant 7 NM_001377946.1:c.-104+12G…

NM_001377946.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant 9 NM_001377958.1:c.-104+12G…

NM_001377958.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant 10 NM_001378058.1:c.-104+12G…

NM_001378058.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant 1 NM_002839.4:c.-103-123680…

NM_002839.4:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant 8 NM_001377947.1:c.-358= N/A 5 Prime UTR Variant
PTPRD transcript variant 5 NM_001040712.2: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.-103-123…

XM_006716817.5:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X24 XM_006716823.4:c.-103-123…

XM_006716823.4:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X27 XM_006716825.5:c.-103-123…

XM_006716825.5:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X40 XM_006716827.5:c.-103-123…

XM_006716827.5:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X1 XM_017014958.3:c.-103-123…

XM_017014958.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X2 XM_017014961.3:c.-103-123…

XM_017014961.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X5 XM_017014963.3:c.-103-123…

XM_017014963.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X4 XM_017014964.3:c.-103-123…

XM_017014964.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X6 XM_017014965.3:c.-103-123…

XM_017014965.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X8 XM_017014966.3:c.-103-123…

XM_017014966.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X9 XM_017014967.3:c.-103-123…

XM_017014967.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X10 XM_017014968.3:c.-103-123…

XM_017014968.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X13 XM_017014969.3:c.-103-123…

XM_017014969.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X12 XM_017014970.3:c.-103-123…

XM_017014970.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X15 XM_017014971.3:c.-103-123…

XM_017014971.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X16 XM_017014972.3:c.-103-123…

XM_017014972.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X17 XM_017014974.3:c.-103-123…

XM_017014974.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X20 XM_017014976.3:c.-103-123…

XM_017014976.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X19 XM_017014977.3:c.-103-123…

XM_017014977.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X22 XM_017014978.3:c.-103-123…

XM_017014978.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X23 XM_017014979.3:c.-103-123…

XM_017014979.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X33 XM_017014980.3:c.-103-123…

XM_017014980.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X44 XM_017014982.3:c.-103-123…

XM_017014982.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X45 XM_017014983.3:c.-103-123…

XM_017014983.3:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X14 XM_024447625.2:c.-103-123…

XM_024447625.2:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X3 XM_047423641.1:c.-103-123…

XM_047423641.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X11 XM_047423642.1:c.-103-123…

XM_047423642.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X18 XM_047423643.1:c.-104+12G…

XM_047423643.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant X21 XM_047423644.1:c.-103-123…

XM_047423644.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X25 XM_047423645.1:c.-103-123…

XM_047423645.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X26 XM_047423646.1:c.-104+12G…

XM_047423646.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant X28 XM_047423647.1:c.-103-123…

XM_047423647.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X29 XM_047423648.1:c.-104+12G…

XM_047423648.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant X30 XM_047423649.1:c.-103-123…

XM_047423649.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X31 XM_047423650.1:c.-103-123…

XM_047423650.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X32 XM_047423651.1:c.-103-123…

XM_047423651.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X34 XM_047423652.1:c.-103-123…

XM_047423652.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X35 XM_047423653.1:c.-103-123…

XM_047423653.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X36 XM_047423654.1:c.-103-123…

XM_047423654.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X37 XM_047423655.1:c.-104+12G…

XM_047423655.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant X38 XM_047423656.1:c.-104+12G…

XM_047423656.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant X39 XM_047423657.1:c.-103-123…

XM_047423657.1:c.-103-123680G>T

N/A Intron Variant
PTPRD transcript variant X41 XM_047423658.1:c.-104+12G…

XM_047423658.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant X42 XM_047423659.1:c.-104+12G…

XM_047423659.1:c.-104+12G>T

N/A Intron Variant
PTPRD transcript variant X43 XM_047423660.1:c.-104+12G…

XM_047423660.1:c.-104+12G>T

N/A Intron Variant
Gene: PTPRD-AS1, PTPRD antisense RNA 1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
PTPRD-AS1 transcript variant 1 NR_121599.1:n. N/A Upstream Transcript Variant
PTPRD-AS1 transcript variant 2 NR_121600.1:n. N/A Upstream Transcript Variant
Help

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
Help

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 T
GRCh38.p14 chr 9 NC_000009.12:g.8857626= NC_000009.12:g.8857626C>A NC_000009.12:g.8857626C>T
GRCh37.p13 chr 9 NC_000009.11:g.8857626= NC_000009.11:g.8857626C>A NC_000009.11:g.8857626C>T
PTPRD RefSeqGene NG_033963.1:g.1760098= NG_033963.1:g.1760098G>T NG_033963.1:g.1760098G>A
PTPRD transcript variant 8 NM_001377947.1:c.-358= NM_001377947.1:c.-358G>T NM_001377947.1:c.-358G>A
PTPRD transcript variant 6 NM_001171025.2:c.-104+12= NM_001171025.2:c.-104+12G>T NM_001171025.2:c.-104+12G>A
PTPRD transcript variant 7 NM_001377946.1:c.-104+12= NM_001377946.1:c.-104+12G>T NM_001377946.1:c.-104+12G>A
PTPRD transcript variant 9 NM_001377958.1:c.-104+12= NM_001377958.1:c.-104+12G>T NM_001377958.1:c.-104+12G>A
PTPRD transcript variant 10 NM_001378058.1:c.-104+12= NM_001378058.1:c.-104+12G>T NM_001378058.1:c.-104+12G>A
PTPRD transcript variant 1 NM_002839.3:c.-103-123680= NM_002839.3:c.-103-123680G>T NM_002839.3:c.-103-123680G>A
PTPRD transcript variant 1 NM_002839.4:c.-103-123680= NM_002839.4:c.-103-123680G>T NM_002839.4:c.-103-123680G>A
PTPRD transcript variant X1 XM_005251529.1:c.-103-123680= XM_005251529.1:c.-103-123680G>T XM_005251529.1:c.-103-123680G>A
PTPRD transcript variant X2 XM_005251530.1:c.-104+12= XM_005251530.1:c.-104+12G>T XM_005251530.1:c.-104+12G>A
PTPRD transcript variant X5 XM_005251533.1:c.-103-123680= XM_005251533.1:c.-103-123680G>T XM_005251533.1:c.-103-123680G>A
PTPRD transcript variant X7 XM_006716817.5:c.-103-123680= XM_006716817.5:c.-103-123680G>T XM_006716817.5:c.-103-123680G>A
PTPRD transcript variant X24 XM_006716823.4:c.-103-123680= XM_006716823.4:c.-103-123680G>T XM_006716823.4:c.-103-123680G>A
PTPRD transcript variant X27 XM_006716825.5:c.-103-123680= XM_006716825.5:c.-103-123680G>T XM_006716825.5:c.-103-123680G>A
PTPRD transcript variant X40 XM_006716827.5:c.-103-123680= XM_006716827.5:c.-103-123680G>T XM_006716827.5:c.-103-123680G>A
PTPRD transcript variant X1 XM_017014958.3:c.-103-123680= XM_017014958.3:c.-103-123680G>T XM_017014958.3:c.-103-123680G>A
PTPRD transcript variant X2 XM_017014961.3:c.-103-123680= XM_017014961.3:c.-103-123680G>T XM_017014961.3:c.-103-123680G>A
PTPRD transcript variant X5 XM_017014963.3:c.-103-123680= XM_017014963.3:c.-103-123680G>T XM_017014963.3:c.-103-123680G>A
PTPRD transcript variant X4 XM_017014964.3:c.-103-123680= XM_017014964.3:c.-103-123680G>T XM_017014964.3:c.-103-123680G>A
PTPRD transcript variant X6 XM_017014965.3:c.-103-123680= XM_017014965.3:c.-103-123680G>T XM_017014965.3:c.-103-123680G>A
PTPRD transcript variant X8 XM_017014966.3:c.-103-123680= XM_017014966.3:c.-103-123680G>T XM_017014966.3:c.-103-123680G>A
PTPRD transcript variant X9 XM_017014967.3:c.-103-123680= XM_017014967.3:c.-103-123680G>T XM_017014967.3:c.-103-123680G>A
PTPRD transcript variant X10 XM_017014968.3:c.-103-123680= XM_017014968.3:c.-103-123680G>T XM_017014968.3:c.-103-123680G>A
PTPRD transcript variant X13 XM_017014969.3:c.-103-123680= XM_017014969.3:c.-103-123680G>T XM_017014969.3:c.-103-123680G>A
PTPRD transcript variant X12 XM_017014970.3:c.-103-123680= XM_017014970.3:c.-103-123680G>T XM_017014970.3:c.-103-123680G>A
PTPRD transcript variant X15 XM_017014971.3:c.-103-123680= XM_017014971.3:c.-103-123680G>T XM_017014971.3:c.-103-123680G>A
PTPRD transcript variant X16 XM_017014972.3:c.-103-123680= XM_017014972.3:c.-103-123680G>T XM_017014972.3:c.-103-123680G>A
PTPRD transcript variant X17 XM_017014974.3:c.-103-123680= XM_017014974.3:c.-103-123680G>T XM_017014974.3:c.-103-123680G>A
PTPRD transcript variant X20 XM_017014976.3:c.-103-123680= XM_017014976.3:c.-103-123680G>T XM_017014976.3:c.-103-123680G>A
PTPRD transcript variant X19 XM_017014977.3:c.-103-123680= XM_017014977.3:c.-103-123680G>T XM_017014977.3:c.-103-123680G>A
PTPRD transcript variant X22 XM_017014978.3:c.-103-123680= XM_017014978.3:c.-103-123680G>T XM_017014978.3:c.-103-123680G>A
PTPRD transcript variant X23 XM_017014979.3:c.-103-123680= XM_017014979.3:c.-103-123680G>T XM_017014979.3:c.-103-123680G>A
PTPRD transcript variant X33 XM_017014980.3:c.-103-123680= XM_017014980.3:c.-103-123680G>T XM_017014980.3:c.-103-123680G>A
PTPRD transcript variant X44 XM_017014982.3:c.-103-123680= XM_017014982.3:c.-103-123680G>T XM_017014982.3:c.-103-123680G>A
PTPRD transcript variant X45 XM_017014983.3:c.-103-123680= XM_017014983.3:c.-103-123680G>T XM_017014983.3:c.-103-123680G>A
PTPRD transcript variant X14 XM_024447625.2:c.-103-123680= XM_024447625.2:c.-103-123680G>T XM_024447625.2:c.-103-123680G>A
PTPRD transcript variant X3 XM_047423641.1:c.-103-123680= XM_047423641.1:c.-103-123680G>T XM_047423641.1:c.-103-123680G>A
PTPRD transcript variant X11 XM_047423642.1:c.-103-123680= XM_047423642.1:c.-103-123680G>T XM_047423642.1:c.-103-123680G>A
PTPRD transcript variant X18 XM_047423643.1:c.-104+12= XM_047423643.1:c.-104+12G>T XM_047423643.1:c.-104+12G>A
PTPRD transcript variant X21 XM_047423644.1:c.-103-123680= XM_047423644.1:c.-103-123680G>T XM_047423644.1:c.-103-123680G>A
PTPRD transcript variant X25 XM_047423645.1:c.-103-123680= XM_047423645.1:c.-103-123680G>T XM_047423645.1:c.-103-123680G>A
PTPRD transcript variant X26 XM_047423646.1:c.-104+12= XM_047423646.1:c.-104+12G>T XM_047423646.1:c.-104+12G>A
PTPRD transcript variant X28 XM_047423647.1:c.-103-123680= XM_047423647.1:c.-103-123680G>T XM_047423647.1:c.-103-123680G>A
PTPRD transcript variant X29 XM_047423648.1:c.-104+12= XM_047423648.1:c.-104+12G>T XM_047423648.1:c.-104+12G>A
PTPRD transcript variant X30 XM_047423649.1:c.-103-123680= XM_047423649.1:c.-103-123680G>T XM_047423649.1:c.-103-123680G>A
PTPRD transcript variant X31 XM_047423650.1:c.-103-123680= XM_047423650.1:c.-103-123680G>T XM_047423650.1:c.-103-123680G>A
PTPRD transcript variant X32 XM_047423651.1:c.-103-123680= XM_047423651.1:c.-103-123680G>T XM_047423651.1:c.-103-123680G>A
PTPRD transcript variant X34 XM_047423652.1:c.-103-123680= XM_047423652.1:c.-103-123680G>T XM_047423652.1:c.-103-123680G>A
PTPRD transcript variant X35 XM_047423653.1:c.-103-123680= XM_047423653.1:c.-103-123680G>T XM_047423653.1:c.-103-123680G>A
PTPRD transcript variant X36 XM_047423654.1:c.-103-123680= XM_047423654.1:c.-103-123680G>T XM_047423654.1:c.-103-123680G>A
PTPRD transcript variant X37 XM_047423655.1:c.-104+12= XM_047423655.1:c.-104+12G>T XM_047423655.1:c.-104+12G>A
PTPRD transcript variant X38 XM_047423656.1:c.-104+12= XM_047423656.1:c.-104+12G>T XM_047423656.1:c.-104+12G>A
PTPRD transcript variant X39 XM_047423657.1:c.-103-123680= XM_047423657.1:c.-103-123680G>T XM_047423657.1:c.-103-123680G>A
PTPRD transcript variant X41 XM_047423658.1:c.-104+12= XM_047423658.1:c.-104+12G>T XM_047423658.1:c.-104+12G>A
PTPRD transcript variant X42 XM_047423659.1:c.-104+12= XM_047423659.1:c.-104+12G>T XM_047423659.1:c.-104+12G>A
PTPRD transcript variant X43 XM_047423660.1:c.-104+12= XM_047423660.1:c.-104+12G>T XM_047423660.1:c.-104+12G>A
Help

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#.

3 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2875192932 Nov 08, 2017 (151)
2 TOPMED ss4811829759 Apr 27, 2021 (155)
3 TOPMED ss4811829760 Apr 27, 2021 (155)
4 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 317499604 (NC_000009.12:8857625:C:A 1/140210)
Row 317499605 (NC_000009.12:8857625:C:T 1/140210)

- Apr 27, 2021 (155)
5 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 317499604 (NC_000009.12:8857625:C:A 1/140210)
Row 317499605 (NC_000009.12:8857625:C:T 1/140210)

- Apr 27, 2021 (155)
6 TopMed

Submission ignored due to conflicting rows:
Row 649207320 (NC_000009.12:8857625:C:A 4/264690)
Row 649207321 (NC_000009.12:8857625:C:T 3/264690)

- Apr 27, 2021 (155)
7 TopMed

Submission ignored due to conflicting rows:
Row 649207320 (NC_000009.12:8857625:C:A 4/264690)
Row 649207321 (NC_000009.12:8857625:C:T 3/264690)

- Apr 27, 2021 (155)
8 ALFA NC_000009.12 - 8857626 Apr 27, 2021 (155)
Help

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
ss2875192932 NC_000009.11:8857625:C:A NC_000009.12:8857625:C:A (self)
5564404562, ss4811829759 NC_000009.12:8857625:C:A NC_000009.12:8857625:C:A (self)
5564404562, ss4811829760 NC_000009.12:8857625:C:T NC_000009.12:8857625:C:T (self)
Help

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

No publications for rs1486985445

Help

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.

Software version is: 2.0.1.post820+afb47a3d