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rs121918725

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918725(A;A)
Make rs121918725(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259984
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918725
ebirs121918725
HLIrs121918725
Exacrs121918725
Varsomers121918725
Maprs121918725
PheGenIrs121918725
hapmaprs121918725
1000 genomesrs121918725
hgdprs121918725
ensemblrs121918725
gopubmedrs121918725
geneviewrs121918725
scholarrs121918725
googlers121918725
pharmgkbrs121918725
gwascentralrs121918725
openSNPrs121918725
23andMers121918725
23andMe allrs121918725
SNP Nexus

SNPshotrs121918725
SNPdbers121918725
MSV3drs121918725
GWAS Ctlgrs121918725
Max Magnitude0
OMIM190195
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121918725(A;A)
Alt rs121918725(A;A)
Reference rs121918725(G;G)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 1
HGVS NC_000014.8:g.24729190C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013315.18,