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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.

rs9935834

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:2102387 (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
G=0.259322 (68640/264690, TOPMED)
G=0.258909 (36167/139690, GnomAD)
G=0.15600 (6967/44660, ALFA) (+ 11 more)
G=0.20603 (4320/20968, ExAC)
G=0.16438 (2059/12526, GO-ESP)
G=0.2227 (1426/6404, 1000G_30x)
G=0.2169 (1086/5008, 1000G)
G=0.0003 (1/2922, KOREAN)
G=0.081 (81/998, GoNL)
G=0.165 (99/600, NorthernSweden)
G=0.182 (97/534, MGP)
G=0.310 (67/216, Qatari)
C=0.346 (45/130, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PKD1 : Synonymous 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 44660 C=0.84400 A=0.00000, G=0.15600, T=0.00000
European Sub 35034 C=0.85283 A=0.00000, G=0.14717, T=0.00000
African Sub 1824 C=0.7346 A=0.0000, G=0.2654, T=0.0000
African Others Sub 52 C=0.56 A=0.00, G=0.44, T=0.00
African American Sub 1772 C=0.7398 A=0.0000, G=0.2602, T=0.0000
Asian Sub 166 C=1.000 A=0.000, G=0.000, T=0.000
East Asian Sub 110 C=1.000 A=0.000, G=0.000, T=0.000
Other Asian Sub 56 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 1 Sub 418 C=0.713 A=0.000, G=0.287, T=0.000
Latin American 2 Sub 470 C=0.996 A=0.000, G=0.004, T=0.000
South Asian Sub 86 C=1.00 A=0.00, G=0.00, T=0.00
Other Sub 6662 C=0.8191 A=0.0000, G=0.1809, T=0.0000


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
TopMed Global Study-wide 264690 C=0.740678 G=0.259322
gnomAD - Genomes Global Study-wide 139690 C=0.741091 G=0.258909
gnomAD - Genomes European Sub 75846 C=0.83547 G=0.16453
gnomAD - Genomes African Sub 41618 C=0.52138 G=0.47862
gnomAD - Genomes American Sub 13632 C=0.81918 G=0.18082
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.7666 G=0.2334
gnomAD - Genomes East Asian Sub 3128 C=0.9984 G=0.0016
gnomAD - Genomes Other Sub 2146 C=0.7558 G=0.2442
Allele Frequency Aggregator Total Global 44660 C=0.84400 A=0.00000, G=0.15600, T=0.00000
Allele Frequency Aggregator European Sub 35034 C=0.85283 A=0.00000, G=0.14717, T=0.00000
Allele Frequency Aggregator Other Sub 6662 C=0.8191 A=0.0000, G=0.1809, T=0.0000
Allele Frequency Aggregator African Sub 1824 C=0.7346 A=0.0000, G=0.2654, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 470 C=0.996 A=0.000, G=0.004, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 418 C=0.713 A=0.000, G=0.287, T=0.000
Allele Frequency Aggregator Asian Sub 166 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 86 C=1.00 A=0.00, G=0.00, T=0.00
ExAC Global Study-wide 20968 C=0.79397 G=0.20603
ExAC Europe Sub 9392 C=0.7562 G=0.2438
ExAC Asian Sub 8612 C=0.9282 G=0.0718
ExAC African Sub 2264 C=0.4351 G=0.5649
ExAC American Sub 474 C=0.823 G=0.177
ExAC Other Sub 226 C=0.783 G=0.217
GO Exome Sequencing Project Global Study-wide 12526 C=0.83562 G=0.16438
GO Exome Sequencing Project European American Sub 8336 C=0.9139 G=0.0861
GO Exome Sequencing Project African American Sub 4190 C=0.6800 G=0.3200
1000Genomes_30x Global Study-wide 6404 C=0.7773 G=0.2227
1000Genomes_30x African Sub 1786 C=0.4468 G=0.5532
1000Genomes_30x Europe Sub 1266 C=0.8420 G=0.1580
1000Genomes_30x South Asian Sub 1202 C=0.9401 G=0.0599
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=0.831 G=0.169
1000Genomes Global Study-wide 5008 C=0.7831 G=0.2169
1000Genomes African Sub 1322 C=0.4448 G=0.5552
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=0.8360 G=0.1640
1000Genomes South Asian Sub 978 C=0.934 G=0.066
1000Genomes American Sub 694 C=0.824 G=0.176
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9997 G=0.0003
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.919 G=0.081
Northern Sweden ACPOP Study-wide 600 C=0.835 G=0.165
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.818 G=0.182
Qatari Global Study-wide 216 C=0.690 G=0.310
SGDP_PRJ Global Study-wide 130 C=0.346 G=0.654
The Danish reference pan genome Danish Study-wide 40 C=0.85 G=0.15
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 16 NC_000016.10:g.2102387C>A
GRCh38.p14 chr 16 NC_000016.10:g.2102387C>G
GRCh38.p14 chr 16 NC_000016.10:g.2102387C>T
GRCh37.p13 chr 16 NC_000016.9:g.2152388C>A
GRCh37.p13 chr 16 NC_000016.9:g.2152388C>G
GRCh37.p13 chr 16 NC_000016.9:g.2152388C>T
PKD1 RefSeqGene NG_008617.1:g.40834G>T
PKD1 RefSeqGene NG_008617.1:g.40834G>C
PKD1 RefSeqGene NG_008617.1:g.40834G>A
Gene: PKD1, polycystin 1, transient receptor potential channel interacting (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PKD1 transcript variant 2 NM_000296.4:c.9195G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform 2 precursor NP_000287.4:p.Val3065= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant 2 NM_000296.4:c.9195G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform 2 precursor NP_000287.4:p.Val3065= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant 2 NM_000296.4:c.9195G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform 2 precursor NP_000287.4:p.Val3065= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant 1 NM_001009944.3:c.9195G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform 1 precursor NP_001009944.3:p.Val3065= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant 1 NM_001009944.3:c.9195G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform 1 precursor NP_001009944.3:p.Val3065= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant 1 NM_001009944.3:c.9195G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform 1 precursor NP_001009944.3:p.Val3065= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X8 XM_011522537.2:c.6273G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X8 XP_011520839.1:p.Val2091= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X8 XM_011522537.2:c.6273G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X8 XP_011520839.1:p.Val2091= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X8 XM_011522537.2:c.6273G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X8 XP_011520839.1:p.Val2091= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X1 XM_047434208.1:c.9330G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X1 XP_047290164.1:p.Val3110= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X1 XM_047434208.1:c.9330G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X1 XP_047290164.1:p.Val3110= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X1 XM_047434208.1:c.9330G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X1 XP_047290164.1:p.Val3110= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X2 XM_047434209.1:c.9258G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X2 XP_047290165.1:p.Val3086= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X2 XM_047434209.1:c.9258G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X2 XP_047290165.1:p.Val3086= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X2 XM_047434209.1:c.9258G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X2 XP_047290165.1:p.Val3086= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X3 XM_011522528.4:c.9249G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X3 XP_011520830.1:p.Val3083= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X3 XM_011522528.4:c.9249G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X3 XP_011520830.1:p.Val3083= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X3 XM_011522528.4:c.9249G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X3 XP_011520830.1:p.Val3083= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X4 XM_011522529.3:c.9249G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X4 XP_011520831.1:p.Val3083= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X4 XM_011522529.3:c.9249G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X4 XP_011520831.1:p.Val3083= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X4 XM_011522529.3:c.9249G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X4 XP_011520831.1:p.Val3083= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X5 XM_047434210.1:c.9177G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X5 XP_047290166.1:p.Val3059= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X5 XM_047434210.1:c.9177G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X5 XP_047290166.1:p.Val3059= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X5 XM_047434210.1:c.9177G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X5 XP_047290166.1:p.Val3059= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X6 XM_047434211.1:c.9120G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X6 XP_047290167.1:p.Val3040= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X6 XM_047434211.1:c.9120G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X6 XP_047290167.1:p.Val3040= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X6 XM_047434211.1:c.9120G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X6 XP_047290167.1:p.Val3040= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X7 XM_047434212.1:c.7290G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X7 XP_047290168.1:p.Val2430= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X7 XM_047434212.1:c.7290G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X7 XP_047290168.1:p.Val2430= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X7 XM_047434212.1:c.7290G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X7 XP_047290168.1:p.Val2430= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X9 XM_047434213.1:c.6267G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X9 XP_047290169.1:p.Val2089= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X9 XM_047434213.1:c.6267G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X9 XP_047290169.1:p.Val2089= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X9 XM_047434213.1:c.6267G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X9 XP_047290169.1:p.Val2089= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X10 XM_005255370.4:c.6150G>T V [GTG] > V [GTT] Coding Sequence Variant
polycystin-1 isoform X10 XP_005255427.1:p.Val2050= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X10 XM_005255370.4:c.6150G>C V [GTG] > V [GTC] Coding Sequence Variant
polycystin-1 isoform X10 XP_005255427.1:p.Val2050= V (Val) > V (Val) Synonymous Variant
PKD1 transcript variant X10 XM_005255370.4:c.6150G>A V [GTG] > V [GTA] Coding Sequence Variant
polycystin-1 isoform X10 XP_005255427.1:p.Val2050= V (Val) > V (Val) Synonymous 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.

Allele: G (allele ID: 255550 )
ClinVar Accession Disease Names Clinical Significance
RCV000244619.2 not specified Benign
RCV000755599.7 Polycystic kidney disease, adult type Benign
RCV001254264.1 Autosomal dominant polycystic kidney disease Benign
RCV001682993.1 not provided Benign
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 G T
GRCh38.p14 chr 16 NC_000016.10:g.2102387= NC_000016.10:g.2102387C>A NC_000016.10:g.2102387C>G NC_000016.10:g.2102387C>T
GRCh37.p13 chr 16 NC_000016.9:g.2152388= NC_000016.9:g.2152388C>A NC_000016.9:g.2152388C>G NC_000016.9:g.2152388C>T
PKD1 RefSeqGene NG_008617.1:g.40834= NG_008617.1:g.40834G>T NG_008617.1:g.40834G>C NG_008617.1:g.40834G>A
PKD1 transcript variant 2 NM_000296.4:c.9195= NM_000296.4:c.9195G>T NM_000296.4:c.9195G>C NM_000296.4:c.9195G>A
PKD1 transcript variant 2 NM_000296.3:c.9195= NM_000296.3:c.9195G>T NM_000296.3:c.9195G>C NM_000296.3:c.9195G>A
PKD1 transcript variant 1 NM_001009944.3:c.9195= NM_001009944.3:c.9195G>T NM_001009944.3:c.9195G>C NM_001009944.3:c.9195G>A
PKD1 transcript variant 1 NM_001009944.2:c.9195= NM_001009944.2:c.9195G>T NM_001009944.2:c.9195G>C NM_001009944.2:c.9195G>A
PKD1 transcript variant X3 XM_011522528.4:c.9249= XM_011522528.4:c.9249G>T XM_011522528.4:c.9249G>C XM_011522528.4:c.9249G>A
PKD1 transcript variant X2 XM_011522528.3:c.9249= XM_011522528.3:c.9249G>T XM_011522528.3:c.9249G>C XM_011522528.3:c.9249G>A
PKD1 transcript variant X1 XM_011522528.2:c.9249= XM_011522528.2:c.9249G>T XM_011522528.2:c.9249G>C XM_011522528.2:c.9249G>A
PKD1 transcript variant X4 XM_011522528.1:c.9249= XM_011522528.1:c.9249G>T XM_011522528.1:c.9249G>C XM_011522528.1:c.9249G>A
PKD1 transcript variant X10 XM_005255370.4:c.6150= XM_005255370.4:c.6150G>T XM_005255370.4:c.6150G>C XM_005255370.4:c.6150G>A
PKD1 transcript variant X8 XM_005255370.3:c.6150= XM_005255370.3:c.6150G>T XM_005255370.3:c.6150G>C XM_005255370.3:c.6150G>A
PKD1 transcript variant X18 XM_005255370.2:c.6150= XM_005255370.2:c.6150G>T XM_005255370.2:c.6150G>C XM_005255370.2:c.6150G>A
PKD1 transcript variant X5 XM_005255370.1:c.6150= XM_005255370.1:c.6150G>T XM_005255370.1:c.6150G>C XM_005255370.1:c.6150G>A
PKD1 transcript variant X4 XM_011522529.3:c.9249= XM_011522529.3:c.9249G>T XM_011522529.3:c.9249G>C XM_011522529.3:c.9249G>A
PKD1 transcript variant X3 XM_011522529.2:c.9249= XM_011522529.2:c.9249G>T XM_011522529.2:c.9249G>C XM_011522529.2:c.9249G>A
PKD1 transcript variant X5 XM_011522529.1:c.9249= XM_011522529.1:c.9249G>T XM_011522529.1:c.9249G>C XM_011522529.1:c.9249G>A
PKD1 transcript variant X8 XM_011522537.2:c.6273= XM_011522537.2:c.6273G>T XM_011522537.2:c.6273G>C XM_011522537.2:c.6273G>A
PKD1 transcript variant X17 XM_011522537.1:c.6273= XM_011522537.1:c.6273G>T XM_011522537.1:c.6273G>C XM_011522537.1:c.6273G>A
PKD1 transcript variant X5 XM_047434210.1:c.9177= XM_047434210.1:c.9177G>T XM_047434210.1:c.9177G>C XM_047434210.1:c.9177G>A
PKD1 transcript variant X1 XM_047434208.1:c.9330= XM_047434208.1:c.9330G>T XM_047434208.1:c.9330G>C XM_047434208.1:c.9330G>A
PKD1 transcript variant X2 XM_047434209.1:c.9258= XM_047434209.1:c.9258G>T XM_047434209.1:c.9258G>C XM_047434209.1:c.9258G>A
PKD1 transcript variant X6 XM_047434211.1:c.9120= XM_047434211.1:c.9120G>T XM_047434211.1:c.9120G>C XM_047434211.1:c.9120G>A
PKD1 transcript variant X7 XM_047434212.1:c.7290= XM_047434212.1:c.7290G>T XM_047434212.1:c.7290G>C XM_047434212.1:c.7290G>A
PKD1 transcript variant X9 XM_047434213.1:c.6267= XM_047434213.1:c.6267G>T XM_047434213.1:c.6267G>C XM_047434213.1:c.6267G>A
polycystin-1 isoform 2 precursor NP_000287.4:p.Val3065= NP_000287.4:p.Val3065= NP_000287.4:p.Val3065= NP_000287.4:p.Val3065=
polycystin-1 isoform 1 precursor NP_001009944.3:p.Val3065= NP_001009944.3:p.Val3065= NP_001009944.3:p.Val3065= NP_001009944.3:p.Val3065=
polycystin-1 isoform X3 XP_011520830.1:p.Val3083= XP_011520830.1:p.Val3083= XP_011520830.1:p.Val3083= XP_011520830.1:p.Val3083=
polycystin-1 isoform X10 XP_005255427.1:p.Val2050= XP_005255427.1:p.Val2050= XP_005255427.1:p.Val2050= XP_005255427.1:p.Val2050=
polycystin-1 isoform X4 XP_011520831.1:p.Val3083= XP_011520831.1:p.Val3083= XP_011520831.1:p.Val3083= XP_011520831.1:p.Val3083=
polycystin-1 isoform X8 XP_011520839.1:p.Val2091= XP_011520839.1:p.Val2091= XP_011520839.1:p.Val2091= XP_011520839.1:p.Val2091=
polycystin-1 isoform X5 XP_047290166.1:p.Val3059= XP_047290166.1:p.Val3059= XP_047290166.1:p.Val3059= XP_047290166.1:p.Val3059=
polycystin-1 isoform X1 XP_047290164.1:p.Val3110= XP_047290164.1:p.Val3110= XP_047290164.1:p.Val3110= XP_047290164.1:p.Val3110=
polycystin-1 isoform X2 XP_047290165.1:p.Val3086= XP_047290165.1:p.Val3086= XP_047290165.1:p.Val3086= XP_047290165.1:p.Val3086=
polycystin-1 isoform X6 XP_047290167.1:p.Val3040= XP_047290167.1:p.Val3040= XP_047290167.1:p.Val3040= XP_047290167.1:p.Val3040=
polycystin-1 isoform X7 XP_047290168.1:p.Val2430= XP_047290168.1:p.Val2430= XP_047290168.1:p.Val2430= XP_047290168.1:p.Val2430=
polycystin-1 isoform X9 XP_047290169.1:p.Val2089= XP_047290169.1:p.Val2089= XP_047290169.1:p.Val2089= XP_047290169.1:p.Val2089=
polycystin-1 isoform 2 precursor NP_000287.3:p.Val3065= NP_000287.3:p.Val3065= NP_000287.3:p.Val3065= NP_000287.3:p.Val3065=
polycystin-1 isoform 1 precursor NP_001009944.2:p.Val3065= NP_001009944.2:p.Val3065= NP_001009944.2:p.Val3065= NP_001009944.2:p.Val3065=
PKD1 transcript variant X2 XM_005255367.1:c.8973+12= XM_005255367.1:c.8973+12G>T XM_005255367.1:c.8973+12G>C XM_005255367.1:c.8973+12G>A
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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#.

41 SubSNP, 16 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss13774957 Dec 05, 2003 (119)
2 SSAHASNP ss35080074 May 24, 2005 (125)
3 HGSV ss77133324 Dec 06, 2007 (142)
4 HGSV ss78510218 Dec 06, 2007 (142)
5 ENSEMBL ss136776287 Dec 01, 2009 (142)
6 SEATTLESEQ ss159731928 Dec 01, 2009 (137)
7 1000GENOMES ss339046396 May 09, 2011 (137)
8 CLINSEQ_SNP ss491710961 May 04, 2012 (137)
9 NHLBI-ESP ss713274940 Apr 25, 2013 (138)
10 EVA-GONL ss992194738 Aug 21, 2014 (142)
11 1000GENOMES ss1355037394 Aug 21, 2014 (142)
12 DDI ss1427750939 Apr 01, 2015 (144)
13 EVA_GENOME_DK ss1577798755 Apr 01, 2015 (144)
14 EVA_EXAC ss1692088009 Apr 01, 2015 (144)
15 EVA_MGP ss1711415186 Apr 01, 2015 (144)
16 WEILL_CORNELL_DGM ss1935602227 Feb 12, 2016 (147)
17 JJLAB ss2028587578 Sep 14, 2016 (149)
18 GNOMAD ss2741649679 Nov 08, 2017 (151)
19 GNOMAD ss2749433439 Nov 08, 2017 (151)
20 GNOMAD ss2939368175 Nov 08, 2017 (151)
21 SWEGEN ss3013929236 Nov 08, 2017 (151)
22 CSHL ss3351296089 Nov 08, 2017 (151)
23 URBANLAB ss3650444659 Oct 12, 2018 (152)
24 ACPOP ss3741264438 Jul 13, 2019 (153)
25 KHV_HUMAN_GENOMES ss3818879467 Jul 13, 2019 (153)
26 EVA ss3824973848 Apr 27, 2020 (154)
27 EVA ss3846311219 Apr 27, 2020 (154)
28 SGDP_PRJ ss3883759529 Apr 27, 2020 (154)
29 KRGDB ss3933036325 Apr 27, 2020 (154)
30 FSA-LAB ss3984085137 Apr 27, 2021 (155)
31 TOPMED ss5004912252 Apr 27, 2021 (155)
32 EVA ss5237232641 Apr 27, 2021 (155)
33 EVA ss5237665467 Oct 17, 2022 (156)
34 1000G_HIGH_COVERAGE ss5299833435 Oct 17, 2022 (156)
35 TRAN_CS_UWATERLOO ss5314442936 Oct 17, 2022 (156)
36 EVA ss5421772483 Oct 17, 2022 (156)
37 1000G_HIGH_COVERAGE ss5601916800 Oct 17, 2022 (156)
38 EVA ss5624058736 Oct 17, 2022 (156)
39 SANFORD_IMAGENETICS ss5658295458 Oct 17, 2022 (156)
40 EVA ss5845987929 Oct 17, 2022 (156)
41 EVA ss5949720365 Oct 17, 2022 (156)
42 1000Genomes NC_000016.9 - 2152388 Oct 12, 2018 (152)
43 1000Genomes_30x NC_000016.10 - 2102387 Oct 17, 2022 (156)
44 ExAC NC_000016.9 - 2152388 Oct 12, 2018 (152)
45 The Danish reference pan genome NC_000016.9 - 2152388 Apr 27, 2020 (154)
46 gnomAD - Genomes NC_000016.10 - 2102387 Apr 27, 2021 (155)
47 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10922561 (NC_000016.9:2152387:C:C 158568/158570, NC_000016.9:2152387:C:A 2/158570)
Row 10922562 (NC_000016.9:2152387:C:C 133778/158570, NC_000016.9:2152387:C:G 24792/158570)

- Jul 13, 2019 (153)
48 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10922561 (NC_000016.9:2152387:C:C 158568/158570, NC_000016.9:2152387:C:A 2/158570)
Row 10922562 (NC_000016.9:2152387:C:C 133778/158570, NC_000016.9:2152387:C:G 24792/158570)

- Jul 13, 2019 (153)
49 GO Exome Sequencing Project NC_000016.9 - 2152388 Oct 12, 2018 (152)
50 Genome of the Netherlands Release 5 NC_000016.9 - 2152388 Apr 27, 2020 (154)
51 KOREAN population from KRGDB NC_000016.9 - 2152388 Apr 27, 2020 (154)
52 Medical Genome Project healthy controls from Spanish population NC_000016.9 - 2152388 Apr 27, 2020 (154)
53 Northern Sweden NC_000016.9 - 2152388 Jul 13, 2019 (153)
54 Qatari NC_000016.9 - 2152388 Apr 27, 2020 (154)
55 SGDP_PRJ NC_000016.9 - 2152388 Apr 27, 2020 (154)
56 TopMed NC_000016.10 - 2102387 Apr 27, 2021 (155)
57 ALFA NC_000016.10 - 2102387 Apr 27, 2021 (155)
58 ClinVar RCV000244619.2 Jul 13, 2019 (153)
59 ClinVar RCV000755599.7 Oct 17, 2022 (156)
60 ClinVar RCV001254264.1 Apr 27, 2021 (155)
61 ClinVar RCV001682993.1 Oct 17, 2022 (156)
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).

Associated ID History Updated (Build)
rs55663903 Aug 21, 2014 (142)
rs78003543 Jan 15, 2013 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2741649679 NC_000016.9:2152387:C:A NC_000016.10:2102386:C:A (self)
4614202224 NC_000016.10:2102386:C:A NC_000016.10:2102386:C:A (self)
ss35080074, ss77133324, ss78510218, ss491710961 NC_000016.8:2092388:C:G NC_000016.10:2102386:C:G (self)
68164339, 2480400, 4015829, 1431068, 16886914, 40213719, 530946, 14549303, 17644149, 35776509, ss339046396, ss713274940, ss992194738, ss1355037394, ss1427750939, ss1577798755, ss1692088009, ss1711415186, ss1935602227, ss2028587578, ss2741649679, ss2749433439, ss2939368175, ss3013929236, ss3351296089, ss3741264438, ss3824973848, ss3883759529, ss3933036325, ss3984085137, ss5421772483, ss5624058736, ss5658295458, ss5845987929, ss5949720365 NC_000016.9:2152387:C:G NC_000016.10:2102386:C:G (self)
RCV000244619.2, RCV000755599.7, RCV001254264.1, RCV001682993.1, 89442735, 480413751, 220457913, 4614202224, ss3650444659, ss3818879467, ss3846311219, ss5004912252, ss5237232641, ss5237665467, ss5299833435, ss5314442936, ss5601916800 NC_000016.10:2102386:C:G NC_000016.10:2102386:C:G (self)
ss136776287, ss159731928 NT_010393.16:2092387:C:G NC_000016.10:2102386:C:G (self)
ss13774957 NT_037887.3:2092311:C:G NC_000016.10:2102386:C:G (self)
4614202224 NC_000016.10:2102386:C:T NC_000016.10:2102386: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.

1 citation for rs9935834
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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.post761+d5e8e07