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rs121918731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918731(C;T)
Make rs121918731(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259769
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918731
ebirs121918731
HLIrs121918731
Exacrs121918731
Varsomers121918731
Maprs121918731
PheGenIrs121918731
hapmaprs121918731
1000 genomesrs121918731
hgdprs121918731
ensemblrs121918731
gopubmedrs121918731
geneviewrs121918731
scholarrs121918731
googlers121918731
pharmgkbrs121918731
gwascentralrs121918731
openSNPrs121918731
23andMers121918731
23andMe allrs121918731
SNP Nexus

SNPshotrs121918731
SNPdbers121918731
MSV3drs121918731
GWAS Ctlgrs121918731
GMAF0.0004591
Max Magnitude0
OMIM190195
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121918731(G,T;G,T)
Alt rs121918731(G,T;G,T)
Reference rs121918731(C;C)
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.24728975G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013322.25,