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rs121918727

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918727(A;A)
Make rs121918727(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259959
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918727
ebirs121918727
HLIrs121918727
Exacrs121918727
Varsomers121918727
Maprs121918727
PheGenIrs121918727
hapmaprs121918727
1000 genomesrs121918727
hgdprs121918727
ensemblrs121918727
gopubmedrs121918727
geneviewrs121918727
scholarrs121918727
googlers121918727
pharmgkbrs121918727
gwascentralrs121918727
openSNPrs121918727
23andMers121918727
23andMe allrs121918727
SNP Nexus

SNPshotrs121918727
SNPdbers121918727
MSV3drs121918727
GWAS Ctlgrs121918727
Max Magnitude0
OMIM190195
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121918727(A;A)
Alt rs121918727(A;A)
Reference rs121918727(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.24729165C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013318.26,