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rs121918719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918719(A;A)
Make rs121918719(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24261775
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918719
ebirs121918719
HLIrs121918719
Exacrs121918719
Varsomers121918719
Maprs121918719
PheGenIrs121918719
hapmaprs121918719
1000 genomesrs121918719
hgdprs121918719
ensemblrs121918719
gopubmedrs121918719
geneviewrs121918719
scholarrs121918719
googlers121918719
pharmgkbrs121918719
gwascentralrs121918719
openSNPrs121918719
23andMers121918719
23andMe allrs121918719
SNP Nexus

SNPshotrs121918719
SNPdbers121918719
MSV3drs121918719
GWAS Ctlgrs121918719
Max Magnitude0
OMIM190195
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918719(A;A)
Alt rs121918719(A;A)
Reference rs121918719(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.24730981C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013299.16,