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rs121918729

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918729(A;A)
Make rs121918729(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24262072
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918729
ebirs121918729
HLIrs121918729
Exacrs121918729
Varsomers121918729
Maprs121918729
PheGenIrs121918729
hapmaprs121918729
1000 genomesrs121918729
hgdprs121918729
ensemblrs121918729
gopubmedrs121918729
geneviewrs121918729
scholarrs121918729
googlers121918729
pharmgkbrs121918729
gwascentralrs121918729
openSNPrs121918729
23andMers121918729
23andMe allrs121918729
SNP Nexus

SNPshotrs121918729
SNPdbers121918729
MSV3drs121918729
GWAS Ctlgrs121918729
GMAF0.001377
Max Magnitude0
OMIM190195
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121918729(A;A)
Alt rs121918729(A;A)
Reference rs121918729(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.24731278C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013320.26,