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rs121918716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918716(C;T)
Make rs121918716(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24261779
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918716
ebirs121918716
HLIrs121918716
Exacrs121918716
Varsomers121918716
Maprs121918716
PheGenIrs121918716
hapmaprs121918716
1000 genomesrs121918716
hgdprs121918716
ensemblrs121918716
gopubmedrs121918716
geneviewrs121918716
scholarrs121918716
googlers121918716
pharmgkbrs121918716
gwascentralrs121918716
openSNPrs121918716
23andMers121918716
23andMe allrs121918716
SNP Nexus

SNPshotrs121918716
SNPdbers121918716
MSV3drs121918716
GWAS Ctlgrs121918716
Max Magnitude0
OMIM190195
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918716(T;T)
Alt rs121918716(T;T)
Reference rs121918716(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.24730985G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013301.17,