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rs121918730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918730(A;C)
Make rs121918730(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259950
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918730
ebirs121918730
HLIrs121918730
Exacrs121918730
Varsomers121918730
Maprs121918730
PheGenIrs121918730
hapmaprs121918730
1000 genomesrs121918730
hgdprs121918730
ensemblrs121918730
gopubmedrs121918730
geneviewrs121918730
scholarrs121918730
googlers121918730
pharmgkbrs121918730
gwascentralrs121918730
openSNPrs121918730
23andMers121918730
23andMe allrs121918730
SNP Nexus

SNPshotrs121918730
SNPdbers121918730
MSV3drs121918730
GWAS Ctlgrs121918730
Max Magnitude0
OMIM190195
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121918730(C,G;C,G)
Alt rs121918730(C,G;C,G)
Reference rs121918730(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.24729156T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013321.24,