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rs267607173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607173(C;T)
Make rs267607173(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position77444311
GeneC14orf133
is asnp
is mentioned by
dbSNPrs267607173
ebirs267607173
HLIrs267607173
Exacrs267607173
Varsomers267607173
Maprs267607173
PheGenIrs267607173
hapmaprs267607173
1000 genomesrs267607173
hgdprs267607173
ensemblrs267607173
gopubmedrs267607173
geneviewrs267607173
scholarrs267607173
googlers267607173
pharmgkbrs267607173
gwascentralrs267607173
openSNPrs267607173
23andMers267607173
23andMe allrs267607173
SNP Nexus

SNPshotrs267607173
SNPdbers267607173
MSV3drs267607173
GWAS Ctlgrs267607173
Max Magnitude0
ClinVar
Risk rs267607173(T;T)
Alt rs267607173(T;T)
Reference rs267607173(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene VIPAS39
CLNDBN Arthrogryposis, renal dysfunction, and cholestasis 2
Reversed 1
HGVS NC_000014.8:g.77910654G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000131.4,