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rs606231278

From SNPedia

Orientationminus
Geno Mag Summary
(GCAGT;GCAGT) 0 common in clinvar
Make rs606231278(GCAGT;TCCTTCA)
Make rs606231278(TCCTTCA;TCCTTCA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position43234829
GeneTGM5
is asnp
is mentioned by
dbSNPrs606231278
ebirs606231278
HLIrs606231278
Exacrs606231278
Varsomers606231278
Maprs606231278
PheGenIrs606231278
hapmaprs606231278
1000 genomesrs606231278
hgdprs606231278
ensemblrs606231278
gopubmedrs606231278
geneviewrs606231278
scholarrs606231278
googlers606231278
pharmgkbrs606231278
gwascentralrs606231278
openSNPrs606231278
23andMers606231278
23andMe allrs606231278
SNP Nexus

SNPshotrs606231278
SNPdbers606231278
MSV3drs606231278
GWAS Ctlgrs606231278
Max Magnitude0
ClinVar
Risk rs606231278(TCCTTCA;TCCTTCA)
Alt rs606231278(TCCTTCA;TCCTTCA)
Reference rs606231278(GCAGT;GCAGT)
Significance Pathogenic
Disease Peeling skin syndrome
Variation info
Gene TGM5
CLNDBN Peeling skin syndrome, acral type
Reversed 1
HGVS NC_000015.9:g.43527027_43527031delACTGCinsTGAAGGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000144915.4,