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rs121918721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918721(G;T)
Make rs121918721(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24258646
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918721
ebirs121918721
HLIrs121918721
Exacrs121918721
Varsomers121918721
Maprs121918721
PheGenIrs121918721
hapmaprs121918721
1000 genomesrs121918721
hgdprs121918721
ensemblrs121918721
gopubmedrs121918721
geneviewrs121918721
scholarrs121918721
googlers121918721
pharmgkbrs121918721
gwascentralrs121918721
openSNPrs121918721
23andMers121918721
23andMe allrs121918721
SNP Nexus

SNPshotrs121918721
SNPdbers121918721
MSV3drs121918721
GWAS Ctlgrs121918721
GMAF0.001377
Max Magnitude0
OMIM190195
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918721(A,T;A,T)
Alt rs121918721(A,T;A,T)
Reference rs121918721(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.24727852C>A; NC_000014.8:g.24727852C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013309.23, RCV000032731.17,