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rs387906903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906903(A;G)
Make rs387906903(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109803113
GeneTRPV4
is asnp
is mentioned by
dbSNPrs387906903
ebirs387906903
HLIrs387906903
Exacrs387906903
Varsomers387906903
Maprs387906903
PheGenIrs387906903
hapmaprs387906903
1000 genomesrs387906903
hgdprs387906903
ensemblrs387906903
gopubmedrs387906903
geneviewrs387906903
scholarrs387906903
googlers387906903
pharmgkbrs387906903
gwascentralrs387906903
openSNPrs387906903
23andMers387906903
23andMe allrs387906903
SNP Nexus

SNPshotrs387906903
SNPdbers387906903
MSV3drs387906903
GWAS Ctlgrs387906903
Max Magnitude0
ClinVar
Risk rs387906903(G;G)
Alt rs387906903(G;G)
Reference rs387906903(A;A)
Significance Pathogenic
Disease Metatrophic dysplasia Skeletal dysplasia
Variation info
Gene TRPV4
CLNDBN Metatrophic dysplasia Skeletal dysplasia
Reversed 1
HGVS NC_000012.11:g.110240918T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023428.2, RCV000202524.1,