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rs121918726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918726(A;A)
Make rs121918726(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24258658
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918726
ebirs121918726
HLIrs121918726
Exacrs121918726
Varsomers121918726
Maprs121918726
PheGenIrs121918726
hapmaprs121918726
1000 genomesrs121918726
hgdprs121918726
ensemblrs121918726
gopubmedrs121918726
geneviewrs121918726
scholarrs121918726
googlers121918726
pharmgkbrs121918726
gwascentralrs121918726
openSNPrs121918726
23andMers121918726
23andMe allrs121918726
SNP Nexus

SNPshotrs121918726
SNPdbers121918726
MSV3drs121918726
GWAS Ctlgrs121918726
Max Magnitude0
OMIM190195
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918726(A;A)
Alt rs121918726(A;A)
Reference rs121918726(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.24727864C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013316.18,