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rs28934611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28934611(C;C)
Make rs28934611(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position10449495
GeneMID1
is asnp
is mentioned by
dbSNPrs28934611
ebirs28934611
HLIrs28934611
Exacrs28934611
Varsomers28934611
Maprs28934611
PheGenIrs28934611
hapmaprs28934611
1000 genomesrs28934611
hgdprs28934611
ensemblrs28934611
gopubmedrs28934611
geneviewrs28934611
scholarrs28934611
googlers28934611
pharmgkbrs28934611
gwascentralrs28934611
openSNPrs28934611
23andMers28934611
23andMe allrs28934611
SNP Nexus

SNPshotrs28934611
SNPdbers28934611
MSV3drs28934611
GWAS Ctlgrs28934611
Max Magnitude0
OMIM300552
DescOPITZ SYNDROME, X-LINKED
Variant0004
Relatedalso


ClinVar
Risk rs28934611(C;C)
Alt rs28934611(C;C)
Reference rs28934611(T;T)
Significance Pathogenic
Disease Opitz-Frias syndrome
Variation info
Gene MID1
CLNDBN Opitz-Frias syndrome
Reversed 1
HGVS NC_000023.10:g.10417535A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011555.7,