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rs200370925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200370925(A;A)
Make rs200370925(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position77442636
GeneC14orf133
is asnp
is mentioned by
dbSNPrs200370925
ebirs200370925
HLIrs200370925
Exacrs200370925
Varsomers200370925
Maprs200370925
PheGenIrs200370925
hapmaprs200370925
1000 genomesrs200370925
hgdprs200370925
ensemblrs200370925
gopubmedrs200370925
geneviewrs200370925
scholarrs200370925
googlers200370925
pharmgkbrs200370925
gwascentralrs200370925
openSNPrs200370925
23andMers200370925
23andMe allrs200370925
SNP Nexus

SNPshotrs200370925
SNPdbers200370925
MSV3drs200370925
GWAS Ctlgrs200370925
Max Magnitude0
ClinVar
Risk rs200370925(A;A)
Alt rs200370925(A;A)
Reference rs200370925(G;G)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene VIPAS39
CLNDBN Arthrogryposis, renal dysfunction, and cholestasis 2
Reversed 0
HGVS NC_000014.8:g.77908979G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000133.4,