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rs111033631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033631(G;T)
Make rs111033631(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101348595
GeneTIMM8A
is asnp
is mentioned by
dbSNPrs111033631
ebirs111033631
HLIrs111033631
Exacrs111033631
Varsomers111033631
Maprs111033631
PheGenIrs111033631
hapmaprs111033631
1000 genomesrs111033631
hgdprs111033631
ensemblrs111033631
gopubmedrs111033631
geneviewrs111033631
scholarrs111033631
googlers111033631
pharmgkbrs111033631
gwascentralrs111033631
openSNPrs111033631
23andMers111033631
23andMe allrs111033631
SNP Nexus

SNPshotrs111033631
SNPdbers111033631
MSV3drs111033631
GWAS Ctlgrs111033631
Max Magnitude0
OMIM300356
Desc
Variant0003
Relatedalso
ClinVar
Risk rs111033631(C,T;C,T)
Alt rs111033631(C,T;C,T)
Reference rs111033631(G;G)
Significance Pathogenic
Disease Mohr-Tranebjaerg syndrome
Variation info
Gene TIMM8A
CLNDBN Mohr-Tranebjaerg syndrome
Reversed 1
HGVS NC_000023.10:g.100603583C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012072.12,