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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.

rs529115496

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:109800637 (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
T=0.000004 (1/264690, TOPMED)
T=0.000024 (6/251242, GnomAD_exome)
T=0.000041 (5/120760, ExAC) (+ 3 more)
T=0.00003 (1/32054, ALFA)
T=0.0002 (1/6404, 1000G_30x)
T=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TRPV4 : Missense 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 48380 C=0.99996 T=0.00004
European Sub 33906 C=1.00000 T=0.00000
African Sub 7152 C=0.9999 T=0.0001
African Others Sub 268 C=1.000 T=0.000
African American Sub 6884 C=0.9999 T=0.0001
Asian Sub 108 C=1.000 T=0.000
East Asian Sub 84 C=1.00 T=0.00
Other Asian Sub 24 C=1.00 T=0.00
Latin American 1 Sub 500 C=1.000 T=0.000
Latin American 2 Sub 628 C=1.000 T=0.000
South Asian Sub 94 C=1.00 T=0.00
Other Sub 5992 C=0.9998 T=0.0002


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=0.999996 T=0.000004
gnomAD - Exomes Global Study-wide 251242 C=0.999976 T=0.000024
gnomAD - Exomes European Sub 135248 C=1.000000 T=0.000000
gnomAD - Exomes Asian Sub 48994 C=0.99988 T=0.00012
gnomAD - Exomes American Sub 34578 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16224 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10072 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6126 C=1.0000 T=0.0000
ExAC Global Study-wide 120760 C=0.999959 T=0.000041
ExAC Europe Sub 72904 C=1.00000 T=0.00000
ExAC Asian Sub 25120 C=0.99980 T=0.00020
ExAC American Sub 11550 C=1.00000 T=0.00000
ExAC African Sub 10286 C=1.00000 T=0.00000
ExAC Other Sub 900 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 32054 C=0.99997 T=0.00003
Allele Frequency Aggregator European Sub 23852 C=1.00000 T=0.00000
Allele Frequency Aggregator Other Sub 4558 C=0.9998 T=0.0002
Allele Frequency Aggregator African Sub 2314 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 108 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 94 C=1.00 T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9998 T=0.0002
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=0.9992 T=0.0008
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9998 T=0.0002
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=0.999 T=0.001
1000Genomes American Sub 694 C=1.000 T=0.000
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 12 NC_000012.12:g.109800637C>A
GRCh38.p14 chr 12 NC_000012.12:g.109800637C>T
GRCh37.p13 chr 12 NC_000012.11:g.110238442C>A
GRCh37.p13 chr 12 NC_000012.11:g.110238442C>T
TRPV4 RefSeqGene (LRG_372) NG_017090.1:g.37771G>T
TRPV4 RefSeqGene (LRG_372) NG_017090.1:g.37771G>A
Gene: TRPV4, transient receptor potential cation channel subfamily V member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TRPV4 transcript variant 5 NM_001177428.1:c.713-1725…

NM_001177428.1:c.713-1725G>T

N/A Intron Variant
TRPV4 transcript variant 3 NM_001177433.1:c.713-1725…

NM_001177433.1:c.713-1725G>T

N/A Intron Variant
TRPV4 transcript variant 2 NM_147204.2:c.834G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform b NP_671737.1:p.Glu278Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant 2 NM_147204.2:c.834G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform b NP_671737.1:p.Glu278= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant 4 NM_001177431.1:c.732G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform d NP_001170902.1:p.Glu244Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant 4 NM_001177431.1:c.732G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform d NP_001170902.1:p.Glu244= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant 1 NM_021625.5:c.834G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform a NP_067638.3:p.Glu278Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant 1 NM_021625.5:c.834G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform a NP_067638.3:p.Glu278= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant X2 XM_011538631.3:c.866-1725…

XM_011538631.3:c.866-1725G>T

N/A Intron Variant
TRPV4 transcript variant X6 XM_011538633.3:c.866-1725…

XM_011538633.3:c.866-1725G>T

N/A Intron Variant
TRPV4 transcript variant X5 XM_047429293.1:c.713-1725…

XM_047429293.1:c.713-1725G>T

N/A Intron Variant
TRPV4 transcript variant X9 XM_047429295.1:c.713-1725…

XM_047429295.1:c.713-1725G>T

N/A Intron Variant
TRPV4 transcript variant X1 XM_011538630.3:c.987G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X1 XP_011536932.2:p.Glu329Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant X1 XM_011538630.3:c.987G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X1 XP_011536932.2:p.Glu329= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant X3 XM_017019774.2:c.834G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X3 XP_016875263.1:p.Glu278Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant X3 XM_017019774.2:c.834G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X3 XP_016875263.1:p.Glu278= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant X4 XM_011538632.3:c.987G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X4 XP_011536934.2:p.Glu329Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant X4 XM_011538632.3:c.987G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X4 XP_011536934.2:p.Glu329= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant X7 XM_047429294.1:c.834G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X7 XP_047285250.1:p.Glu278Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant X7 XM_047429294.1:c.834G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X7 XP_047285250.1:p.Glu278= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant X8 XM_011538634.3:c.987G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X8 XP_011536936.2:p.Glu329Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant X8 XM_011538634.3:c.987G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X8 XP_011536936.2:p.Glu329= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant X10 XM_011538635.3:c.987G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X10 XP_011536937.1:p.Glu329Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant X10 XM_011538635.3:c.987G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X10 XP_011536937.1:p.Glu329= E (Glu) > E (Glu) Synonymous Variant
TRPV4 transcript variant X11 XM_047429296.1:c.987G>T E [GAG] > D [GAT] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X11 XP_047285252.1:p.Glu329Asp E (Glu) > D (Asp) Missense Variant
TRPV4 transcript variant X11 XM_047429296.1:c.987G>A E [GAG] > E [GAA] Coding Sequence Variant
transient receptor potential cation channel subfamily V member 4 isoform X11 XP_047285252.1:p.Glu329= E (Glu) > E (Glu) 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: A (allele ID: 640622 )
ClinVar Accession Disease Names Clinical Significance
RCV000806161.4 Charcot-Marie-Tooth disease axonal type 2C Uncertain-Significance
Allele: T (allele ID: 905353 )
ClinVar Accession Disease Names Clinical Significance
RCV001172925.1 Charcot-Marie-Tooth disease Likely-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 T
GRCh38.p14 chr 12 NC_000012.12:g.109800637= NC_000012.12:g.109800637C>A NC_000012.12:g.109800637C>T
GRCh37.p13 chr 12 NC_000012.11:g.110238442= NC_000012.11:g.110238442C>A NC_000012.11:g.110238442C>T
TRPV4 RefSeqGene (LRG_372) NG_017090.1:g.37771= NG_017090.1:g.37771G>T NG_017090.1:g.37771G>A
TRPV4 transcript variant 1 NM_021625.5:c.834= NM_021625.5:c.834G>T NM_021625.5:c.834G>A
TRPV4 transcript variant 1 NM_021625.4:c.834= NM_021625.4:c.834G>T NM_021625.4:c.834G>A
TRPV4 transcript variant 2 NM_147204.2:c.834= NM_147204.2:c.834G>T NM_147204.2:c.834G>A
TRPV4 transcript variant 4 NM_001177431.1:c.732= NM_001177431.1:c.732G>T NM_001177431.1:c.732G>A
TRPV4 transcript variant X1 XM_011538630.3:c.987= XM_011538630.3:c.987G>T XM_011538630.3:c.987G>A
TRPV4 transcript variant X1 XM_011538630.2:c.987= XM_011538630.2:c.987G>T XM_011538630.2:c.987G>A
TRPV4 transcript variant X1 XM_011538630.1:c.834= XM_011538630.1:c.834G>T XM_011538630.1:c.834G>A
TRPV4 transcript variant X4 XM_011538632.3:c.987= XM_011538632.3:c.987G>T XM_011538632.3:c.987G>A
TRPV4 transcript variant X5 XM_011538632.2:c.987= XM_011538632.2:c.987G>T XM_011538632.2:c.987G>A
TRPV4 transcript variant X4 XM_011538632.1:c.834= XM_011538632.1:c.834G>T XM_011538632.1:c.834G>A
TRPV4 transcript variant X8 XM_011538634.3:c.987= XM_011538634.3:c.987G>T XM_011538634.3:c.987G>A
TRPV4 transcript variant X7 XM_011538634.2:c.987= XM_011538634.2:c.987G>T XM_011538634.2:c.987G>A
TRPV4 transcript variant X6 XM_011538634.1:c.834= XM_011538634.1:c.834G>T XM_011538634.1:c.834G>A
TRPV4 transcript variant X10 XM_011538635.3:c.987= XM_011538635.3:c.987G>T XM_011538635.3:c.987G>A
TRPV4 transcript variant X8 XM_011538635.2:c.987= XM_011538635.2:c.987G>T XM_011538635.2:c.987G>A
TRPV4 transcript variant X7 XM_011538635.1:c.987= XM_011538635.1:c.987G>T XM_011538635.1:c.987G>A
TRPV4 transcript variant X3 XM_017019774.2:c.834= XM_017019774.2:c.834G>T XM_017019774.2:c.834G>A
TRPV4 transcript variant X4 XM_017019774.1:c.834= XM_017019774.1:c.834G>T XM_017019774.1:c.834G>A
TRPV4 transcript variant X7 XM_047429294.1:c.834= XM_047429294.1:c.834G>T XM_047429294.1:c.834G>A
TRPV4 transcript variant X11 XM_047429296.1:c.987= XM_047429296.1:c.987G>T XM_047429296.1:c.987G>A
transient receptor potential cation channel subfamily V member 4 isoform a NP_067638.3:p.Glu278= NP_067638.3:p.Glu278Asp NP_067638.3:p.Glu278=
transient receptor potential cation channel subfamily V member 4 isoform b NP_671737.1:p.Glu278= NP_671737.1:p.Glu278Asp NP_671737.1:p.Glu278=
transient receptor potential cation channel subfamily V member 4 isoform d NP_001170902.1:p.Glu244= NP_001170902.1:p.Glu244Asp NP_001170902.1:p.Glu244=
transient receptor potential cation channel subfamily V member 4 isoform X1 XP_011536932.2:p.Glu329= XP_011536932.2:p.Glu329Asp XP_011536932.2:p.Glu329=
transient receptor potential cation channel subfamily V member 4 isoform X4 XP_011536934.2:p.Glu329= XP_011536934.2:p.Glu329Asp XP_011536934.2:p.Glu329=
transient receptor potential cation channel subfamily V member 4 isoform X8 XP_011536936.2:p.Glu329= XP_011536936.2:p.Glu329Asp XP_011536936.2:p.Glu329=
transient receptor potential cation channel subfamily V member 4 isoform X10 XP_011536937.1:p.Glu329= XP_011536937.1:p.Glu329Asp XP_011536937.1:p.Glu329=
transient receptor potential cation channel subfamily V member 4 isoform X3 XP_016875263.1:p.Glu278= XP_016875263.1:p.Glu278Asp XP_016875263.1:p.Glu278=
transient receptor potential cation channel subfamily V member 4 isoform X7 XP_047285250.1:p.Glu278= XP_047285250.1:p.Glu278Asp XP_047285250.1:p.Glu278=
transient receptor potential cation channel subfamily V member 4 isoform X11 XP_047285252.1:p.Glu329= XP_047285252.1:p.Glu329Asp XP_047285252.1:p.Glu329=
TRPV4 transcript variant 5 NM_001177428.1:c.713-1725= NM_001177428.1:c.713-1725G>T NM_001177428.1:c.713-1725G>A
TRPV4 transcript variant 3 NM_001177433.1:c.713-1725= NM_001177433.1:c.713-1725G>T NM_001177433.1:c.713-1725G>A
TRPV4 transcript variant X2 XM_011538631.3:c.866-1725= XM_011538631.3:c.866-1725G>T XM_011538631.3:c.866-1725G>A
TRPV4 transcript variant X6 XM_011538633.3:c.866-1725= XM_011538633.3:c.866-1725G>T XM_011538633.3:c.866-1725G>A
TRPV4 transcript variant X5 XM_047429293.1:c.713-1725= XM_047429293.1:c.713-1725G>T XM_047429293.1:c.713-1725G>A
TRPV4 transcript variant X9 XM_047429295.1:c.713-1725= XM_047429295.1:c.713-1725G>T XM_047429295.1:c.713-1725G>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#.

7 SubSNP, 6 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1346611563 Aug 21, 2014 (142)
2 EVA_EXAC ss1691101711 Apr 01, 2015 (144)
3 GNOMAD ss2740122524 Nov 08, 2017 (151)
4 TOPMED ss4932513059 Apr 26, 2021 (155)
5 EVA ss5408181249 Oct 16, 2022 (156)
6 1000G_HIGH_COVERAGE ss5590423189 Oct 16, 2022 (156)
7 EVA ss5905994563 Oct 16, 2022 (156)
8 1000Genomes NC_000012.11 - 110238442 Oct 12, 2018 (152)
9 1000Genomes_30x NC_000012.12 - 109800637 Oct 16, 2022 (156)
10 ExAC NC_000012.11 - 110238442 Oct 12, 2018 (152)
11 gnomAD - Exomes NC_000012.11 - 110238442 Jul 13, 2019 (153)
12 TopMed NC_000012.12 - 109800637 Apr 26, 2021 (155)
13 ALFA NC_000012.12 - 109800637 Apr 26, 2021 (155)
14 ClinVar RCV000806161.4 Oct 16, 2022 (156)
15 ClinVar RCV001172925.1 Apr 26, 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
RCV000806161.4 NC_000012.12:109800636:C:A NC_000012.12:109800636:C:A (self)
59421271, 1415363, 9360780, ss1346611563, ss1691101711, ss2740122524, ss5408181249 NC_000012.11:110238441:C:T NC_000012.12:109800636:C:T (self)
RCV001172925.1, 77949124, 148058716, 11287351731, ss4932513059, ss5590423189, ss5905994563 NC_000012.12:109800636:C:T NC_000012.12:109800636: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 rs529115496

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