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rs3742030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs3742030(C;T)
Make rs3742030(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109814742
GeneTRPV4
is asnp
is mentioned by
dbSNPrs3742030
ebirs3742030
HLIrs3742030
Exacrs3742030
Varsomers3742030
Maprs3742030
PheGenIrs3742030
hapmaprs3742030
1000 genomesrs3742030
hgdprs3742030
ensemblrs3742030
gopubmedrs3742030
geneviewrs3742030
scholarrs3742030
googlers3742030
pharmgkbrs3742030
gwascentralrs3742030
openSNPrs3742030
23andMers3742030
23andMe allrs3742030
SNP Nexus

SNPshotrs3742030
SNPdbers3742030
MSV3drs3742030
GWAS Ctlgrs3742030
GMAF0.04454
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM605427
DescTRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4;
Variant
Relatedalso
OMIM605427
Desc
Variant0012
Relatedalso


GET Evidence
TRPV4-P19S
aa_change Pro19Ser
aa_change_short P19S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0300224
summary



ClinVar
Risk rs3742030(T;T)
Alt rs3742030(T;T)
Reference rs3742030(C;C)
Significance Other
Disease Sodium serum level quantitative trait locus 1 not specified
Variation info
Gene TRPV4
CLNDBN Sodium serum level quantitative trait locus 1 not specified
Reversed 1
HGVS NC_000012.11:g.110252547G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005297.2, RCV000125613.1,