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rs606231276

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs606231276(C;C)
Make rs606231276(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position43238827
GeneTGM5
is asnp
is mentioned by
dbSNPrs606231276
dbSNP (classic)rs606231276
ClinGenrs606231276
ebirs606231276
HLIrs606231276
Exacrs606231276
Gnomadrs606231276
Varsomers606231276
LitVarrs606231276
Maprs606231276
PheGenIrs606231276
Biobankrs606231276
1000 genomesrs606231276
hgdprs606231276
ensemblrs606231276
geneviewrs606231276
scholarrs606231276
googlers606231276
pharmgkbrs606231276
gwascentralrs606231276
openSNPrs606231276
23andMers606231276
SNPshotrs606231276
SNPdbers606231276
MSV3drs606231276
GWAS Ctlgrs606231276
Max Magnitude0
ClinVar
Risk rs606231276(C;C)
Alt rs606231276(C;C)
Reference Rs606231276(G;G)
Significance Pathogenic
Disease Peeling skin syndrome
Variation info
Gene TGM5
CLNDBN Peeling skin syndrome, acral type
Reversed 1
HGVS NC_000015.9:g.43531025C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144911.4,