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rs387906719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906719(G;T)
Make rs387906719(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position10523136
GeneMID1
is asnp
is mentioned by
dbSNPrs387906719
ebirs387906719
HLIrs387906719
Exacrs387906719
Varsomers387906719
Maprs387906719
PheGenIrs387906719
hapmaprs387906719
1000 genomesrs387906719
hgdprs387906719
ensemblrs387906719
gopubmedrs387906719
geneviewrs387906719
scholarrs387906719
googlers387906719
pharmgkbrs387906719
gwascentralrs387906719
openSNPrs387906719
23andMers387906719
23andMe allrs387906719
SNP Nexus

SNPshotrs387906719
SNPdbers387906719
MSV3drs387906719
GWAS Ctlgrs387906719
Max Magnitude0
ClinVar
Risk rs387906719(T;T)
Alt rs387906719(T;T)
Reference rs387906719(G;G)
Significance Pathogenic
Disease Opitz-Frias syndrome
Variation info
Gene MID1
CLNDBN Opitz-Frias syndrome
Reversed 1
HGVS NC_000023.10:g.10491176C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022867.4,