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rs121918722

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918722(A;A)
Make rs121918722(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259087
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918722
ebirs121918722
HLIrs121918722
Exacrs121918722
Varsomers121918722
Maprs121918722
PheGenIrs121918722
hapmaprs121918722
1000 genomesrs121918722
hgdprs121918722
ensemblrs121918722
gopubmedrs121918722
geneviewrs121918722
scholarrs121918722
googlers121918722
pharmgkbrs121918722
gwascentralrs121918722
openSNPrs121918722
23andMers121918722
23andMe allrs121918722
SNP Nexus

SNPshotrs121918722
SNPdbers121918722
MSV3drs121918722
GWAS Ctlgrs121918722
Max Magnitude0
OMIM190195
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121918722(A;A)
Alt rs121918722(A;A)
Reference rs121918722(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.24728293C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013310.18,