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rs387906921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906921(A;A)
Make rs387906921(A;C)
ReferenceGRCh38 38.1/141
Chromosome21
Position41743950
GeneRIPK4
is asnp
is mentioned by
dbSNPrs387906921
ebirs387906921
HLIrs387906921
Exacrs387906921
Varsomers387906921
Maprs387906921
PheGenIrs387906921
hapmaprs387906921
1000 genomesrs387906921
hgdprs387906921
ensemblrs387906921
gopubmedrs387906921
geneviewrs387906921
scholarrs387906921
googlers387906921
pharmgkbrs387906921
gwascentralrs387906921
openSNPrs387906921
23andMers387906921
23andMe allrs387906921
SNP Nexus

SNPshotrs387906921
SNPdbers387906921
MSV3drs387906921
GWAS Ctlgrs387906921
Max Magnitude0
ClinVar
Risk rs387906921(A,T;A,T)
Alt rs387906921(A,T;A,T)
Reference rs387906921(C;C)
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.43164110G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023468.2,