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rs267607172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607172(G;G)
Make rs267607172(G;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77454101
GeneC14orf133
is asnp
is mentioned by
dbSNPrs267607172
ebirs267607172
HLIrs267607172
Exacrs267607172
Varsomers267607172
Maprs267607172
PheGenIrs267607172
hapmaprs267607172
1000 genomesrs267607172
hgdprs267607172
ensemblrs267607172
gopubmedrs267607172
geneviewrs267607172
scholarrs267607172
googlers267607172
pharmgkbrs267607172
gwascentralrs267607172
openSNPrs267607172
23andMers267607172
23andMe allrs267607172
SNP Nexus

SNPshotrs267607172
SNPdbers267607172
MSV3drs267607172
GWAS Ctlgrs267607172
Max Magnitude0
ClinVar
Risk rs267607172(G;G)
Alt rs267607172(G;G)
Reference rs267607172(T;T)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene VIPAS39
CLNDBN Arthrogryposis, renal dysfunction, and cholestasis 2
Reversed 1
HGVS NC_000014.8:g.77920444A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000135.4,