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rs267607171

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607171(C;T)
Make rs267607171(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77435885
GeneC14orf133
is asnp
is mentioned by
dbSNPrs267607171
ebirs267607171
HLIrs267607171
Exacrs267607171
Varsomers267607171
Maprs267607171
PheGenIrs267607171
hapmaprs267607171
1000 genomesrs267607171
hgdprs267607171
ensemblrs267607171
gopubmedrs267607171
geneviewrs267607171
scholarrs267607171
googlers267607171
pharmgkbrs267607171
gwascentralrs267607171
openSNPrs267607171
23andMers267607171
23andMe allrs267607171
SNP Nexus

SNPshotrs267607171
SNPdbers267607171
MSV3drs267607171
GWAS Ctlgrs267607171
Max Magnitude0
ClinVar
Risk rs267607171(T;T)
Alt rs267607171(T;T)
Reference rs267607171(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene VIPAS39
CLNDBN Arthrogryposis, renal dysfunction, and cholestasis 2
Reversed 1
HGVS NC_000014.8:g.77902228G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000134.5,