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rs121918723

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918723(A;A)
Make rs121918723(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24258667
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918723
ebirs121918723
HLIrs121918723
Exacrs121918723
Varsomers121918723
Maprs121918723
PheGenIrs121918723
hapmaprs121918723
1000 genomesrs121918723
hgdprs121918723
ensemblrs121918723
gopubmedrs121918723
geneviewrs121918723
scholarrs121918723
googlers121918723
pharmgkbrs121918723
gwascentralrs121918723
openSNPrs121918723
23andMers121918723
23andMe allrs121918723
SNP Nexus

SNPshotrs121918723
SNPdbers121918723
MSV3drs121918723
GWAS Ctlgrs121918723
Max Magnitude0
OMIM190195
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121918723(A,C;A,C)
Alt rs121918723(A,C;A,C)
Reference rs121918723(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.24727873C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013311.24,