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rs104894866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894866(C;C)
Make rs104894866(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position10482609
GeneMID1
is asnp
is mentioned by
dbSNPrs104894866
dbSNP (classic)rs104894866
ClinGenrs104894866
ebirs104894866
HLIrs104894866
Exacrs104894866
Gnomadrs104894866
Varsomers104894866
LitVarrs104894866
Maprs104894866
PheGenIrs104894866
Biobankrs104894866
1000 genomesrs104894866
hgdprs104894866
ensemblrs104894866
geneviewrs104894866
scholarrs104894866
googlers104894866
pharmgkbrs104894866
gwascentralrs104894866
openSNPrs104894866
23andMers104894866
SNPshotrs104894866
SNPdbers104894866
MSV3drs104894866
GWAS Ctlgrs104894866
Max Magnitude0
OMIM300552
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894866(C;C)
Alt rs104894866(C;C)
Reference Rs104894866(T;T)
Significance Pathogenic
Disease Opitz-Frias syndrome
Variation info
Gene MID1
CLNDBN Opitz-Frias syndrome
Reversed 1
HGVS NC_000023.10:g.10450649A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011558.2,