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rs115677373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs115677373(A;G)
Make rs115677373(G;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position43252858
GeneTGM5
is asnp
is mentioned by
dbSNPrs115677373
dbSNP (classic)rs115677373
ClinGenrs115677373
ebirs115677373
HLIrs115677373
Exacrs115677373
Gnomadrs115677373
Varsomers115677373
LitVarrs115677373
Maprs115677373
PheGenIrs115677373
Biobankrs115677373
1000 genomesrs115677373
hgdprs115677373
ensemblrs115677373
geneviewrs115677373
scholarrs115677373
googlers115677373
pharmgkbrs115677373
gwascentralrs115677373
openSNPrs115677373
23andMers115677373
SNPshotrs115677373
SNPdbers115677373
MSV3drs115677373
GWAS Ctlgrs115677373
Max Magnitude0
ClinVar
Risk rs115677373(G;G)
Alt rs115677373(G;G)
Reference Rs115677373(A;A)
Significance Pathogenic
Disease Peeling skin syndrome
Variation info
Gene TGM5
CLNDBN Peeling skin syndrome, acral type
Reversed 0
HGVS NC_000015.9:g.43545056A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144912.5,