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rs387906923

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906923(A;A)
Make rs387906923(A;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position41756637
GeneRIPK4
is asnp
is mentioned by
dbSNPrs387906923
ebirs387906923
HLIrs387906923
Exacrs387906923
Varsomers387906923
Maprs387906923
PheGenIrs387906923
hapmaprs387906923
1000 genomesrs387906923
hgdprs387906923
ensemblrs387906923
gopubmedrs387906923
geneviewrs387906923
scholarrs387906923
googlers387906923
pharmgkbrs387906923
gwascentralrs387906923
openSNPrs387906923
23andMers387906923
23andMe allrs387906923
SNP Nexus

SNPshotrs387906923
SNPdbers387906923
MSV3drs387906923
GWAS Ctlgrs387906923
Max Magnitude0
ClinVar
Risk rs387906923(A;A)
Alt rs387906923(A;A)
Reference rs387906923(T;T)
Significance Pathogenic
Disease Popliteal pterygium syndrome lethal type
Variation info
Gene RIPK4
CLNDBN Popliteal pterygium syndrome lethal type
Reversed 1
HGVS NC_000021.8:g.43176797A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023470.2,