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rs1054894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0
Make rs1054894(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101346555
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs1054894
dbSNP (old)rs1054894
ClinGenrs1054894
ebirs1054894
HLIrs1054894
Exacrs1054894
Varsomers1054894
Maprs1054894
PheGenIrs1054894
Biobankrs1054894
1000 genomesrs1054894
hgdprs1054894
ensemblrs1054894
gopubmedrs1054894
geneviewrs1054894
scholarrs1054894
googlers1054894
pharmgkbrs1054894
gwascentralrs1054894
openSNPrs1054894
23andMers1054894
23andMe allrs1054894
SNP Nexus

SNPshotrs1054894
SNPdbers1054894
MSV3drs1054894
GWAS Ctlgrs1054894
Max Magnitude0
OMIM300356
Desc
Variant0007
Relatedalso
ClinVar
Risk Rs1054894(T;T)
Alt Rs1054894(T;T)
Reference Rs1054894(C;C)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100601543G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012076.12,