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rs387907031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907031(C;T)
Make rs387907031(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position119413976
GeneARHGAP31, LOC107986117
is asnp
is mentioned by
dbSNPrs387907031
dbSNP (classic)rs387907031
ClinGenrs387907031
ebirs387907031
HLIrs387907031
Exacrs387907031
Gnomadrs387907031
Varsomers387907031
LitVarrs387907031
Maprs387907031
PheGenIrs387907031
Biobankrs387907031
1000 genomesrs387907031
hgdprs387907031
ensemblrs387907031
geneviewrs387907031
scholarrs387907031
googlers387907031
pharmgkbrs387907031
gwascentralrs387907031
openSNPrs387907031
23andMers387907031
SNPshotrs387907031
SNPdbers387907031
MSV3drs387907031
GWAS Ctlgrs387907031
Max Magnitude0
ClinVar
Risk rs387907031(T;T)
Alt rs387907031(T;T)
Reference Rs387907031(C;C)
Significance Pathogenic
Disease Adams-Oliver syndrome 1
Variation info
Gene ARHGAP31
CLNDBN Adams-Oliver syndrome 1
Reversed 0
HGVS NC_000003.11:g.119132823C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023842.2,