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rs143473912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs143473912(A;A)
Make rs143473912(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259744
GeneTGM1
is asnp
is mentioned by
dbSNPrs143473912
ebirs143473912
HLIrs143473912
Exacrs143473912
Varsomers143473912
Maprs143473912
PheGenIrs143473912
hapmaprs143473912
1000 genomesrs143473912
hgdprs143473912
ensemblrs143473912
gopubmedrs143473912
geneviewrs143473912
scholarrs143473912
googlers143473912
pharmgkbrs143473912
gwascentralrs143473912
openSNPrs143473912
23andMers143473912
23andMe allrs143473912
SNP Nexus

SNPshotrs143473912
SNPdbers143473912
MSV3drs143473912
GWAS Ctlgrs143473912
Max Magnitude0
ClinVar
Risk rs143473912(A,T;A,T)
Alt rs143473912(A,T;A,T)
Reference rs143473912(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 0
HGVS NC_000014.8:g.24728950C>A; NC_000014.8:g.24728950C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032729.25, RCV000032728.24,