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rs121918724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918724(A;G)
Make rs121918724(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24256011
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918724
ebirs121918724
HLIrs121918724
Exacrs121918724
Varsomers121918724
Maprs121918724
PheGenIrs121918724
hapmaprs121918724
1000 genomesrs121918724
hgdprs121918724
ensemblrs121918724
gopubmedrs121918724
geneviewrs121918724
scholarrs121918724
googlers121918724
pharmgkbrs121918724
gwascentralrs121918724
openSNPrs121918724
23andMers121918724
23andMe allrs121918724
SNP Nexus

SNPshotrs121918724
SNPdbers121918724
MSV3drs121918724
GWAS Ctlgrs121918724
Max Magnitude0
OMIM190195
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918724(G;G)
Alt rs121918724(G;G)
Reference rs121918724(A;A)
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.24725217T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013313.25,