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rs121918732

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918732(A;A)
Make rs121918732(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24260555
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918732
ebirs121918732
HLIrs121918732
Exacrs121918732
Varsomers121918732
Maprs121918732
PheGenIrs121918732
hapmaprs121918732
1000 genomesrs121918732
hgdprs121918732
ensemblrs121918732
gopubmedrs121918732
geneviewrs121918732
scholarrs121918732
googlers121918732
pharmgkbrs121918732
gwascentralrs121918732
openSNPrs121918732
23andMers121918732
23andMe allrs121918732
SNP Nexus

SNPshotrs121918732
SNPdbers121918732
MSV3drs121918732
GWAS Ctlgrs121918732
Max Magnitude0
OMIM190195
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121918732(A;A)
Alt rs121918732(A;A)
Reference rs121918732(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.24729761C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013323.17,