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rs112292549

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112292549(A;A)
Make rs112292549(A;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position43260151
GeneTGM5
is asnp
is mentioned by
dbSNPrs112292549
ebirs112292549
HLIrs112292549
Exacrs112292549
Varsomers112292549
Maprs112292549
PheGenIrs112292549
hapmaprs112292549
1000 genomesrs112292549
hgdprs112292549
ensemblrs112292549
gopubmedrs112292549
geneviewrs112292549
scholarrs112292549
googlers112292549
pharmgkbrs112292549
gwascentralrs112292549
openSNPrs112292549
23andMers112292549
23andMe allrs112292549
SNP Nexus

SNPshotrs112292549
SNPdbers112292549
MSV3drs112292549
GWAS Ctlgrs112292549
GMAF0.001377
Max Magnitude0
OMIM603805
Desc
Variant0001
Relatedalso
ClinVar
Risk rs112292549(A;A)
Alt rs112292549(A;A)
Reference rs112292549(C;C)
Significance Pathogenic
Disease Peeling skin syndrome
Variation info
Gene TGM5
CLNDBN Peeling skin syndrome, acral type
Reversed 0
HGVS NC_000015.9:g.43552349C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006411.3,