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rs116571438

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116571438(A;A)
Make rs116571438(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109788483
GeneTRPV4
is asnp
is mentioned by
dbSNPrs116571438
ebirs116571438
HLIrs116571438
Exacrs116571438
Varsomers116571438
Maprs116571438
PheGenIrs116571438
hapmaprs116571438
1000 genomesrs116571438
hgdprs116571438
ensemblrs116571438
gopubmedrs116571438
geneviewrs116571438
scholarrs116571438
googlers116571438
pharmgkbrs116571438
gwascentralrs116571438
openSNPrs116571438
23andMers116571438
23andMe allrs116571438
SNP Nexus

SNPshotrs116571438
SNPdbers116571438
MSV3drs116571438
GWAS Ctlgrs116571438
Max Magnitude0
ClinVar
Risk rs116571438(A,T;A,T)
Alt rs116571438(A,T;A,T)
Reference rs116571438(G;G)
Significance Pathogenic
Disease Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Skeletal dysplasia
Reversed 0
HGVS NC_000012.11:g.110226288G>T
CLNSRC
CLNACC RCV000202538.1,