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rs143601447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs143601447(A;G)
Make rs143601447(G;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position43260468
GeneTGM5
is asnp
is mentioned by
dbSNPrs143601447
dbSNP (classic)rs143601447
ClinGenrs143601447
ebirs143601447
HLIrs143601447
Exacrs143601447
Gnomadrs143601447
Varsomers143601447
LitVarrs143601447
Maprs143601447
PheGenIrs143601447
Biobankrs143601447
1000 genomesrs143601447
hgdprs143601447
ensemblrs143601447
geneviewrs143601447
scholarrs143601447
googlers143601447
pharmgkbrs143601447
gwascentralrs143601447
openSNPrs143601447
23andMers143601447
SNPshotrs143601447
SNPdbers143601447
MSV3drs143601447
GWAS Ctlgrs143601447
Max Magnitude0
ClinVar
Risk rs143601447(G;G)
Alt rs143601447(G;G)
Reference Rs143601447(A;A)
Significance Pathogenic
Disease Peeling skin syndrome not provided
Variation info
Gene TGM5
CLNDBN Peeling skin syndrome, acral type not provided
Reversed 0
HGVS NC_000015.9:g.43552666A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000144913.5, RCV000442177.1,