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rs121918720

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918720(C;C)
Make rs121918720(C;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position24259099
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918720
ebirs121918720
HLIrs121918720
Exacrs121918720
Varsomers121918720
Maprs121918720
PheGenIrs121918720
hapmaprs121918720
1000 genomesrs121918720
hgdprs121918720
ensemblrs121918720
gopubmedrs121918720
geneviewrs121918720
scholarrs121918720
googlers121918720
pharmgkbrs121918720
gwascentralrs121918720
openSNPrs121918720
23andMers121918720
23andMe allrs121918720
SNP Nexus

SNPshotrs121918720
SNPdbers121918720
MSV3drs121918720
GWAS Ctlgrs121918720
GMAF0.0
Max Magnitude0
OMIM190195
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918720(A,C;A,C)
Alt rs121918720(A,C;A,C)
Reference rs121918720(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.24728305C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013307.24,