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rs398122904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122904(C;T)
Make rs398122904(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24249489
GeneTGM1
is asnp
is mentioned by
dbSNPrs398122904
ebirs398122904
HLIrs398122904
Exacrs398122904
Varsomers398122904
Maprs398122904
PheGenIrs398122904
hapmaprs398122904
1000 genomesrs398122904
hgdprs398122904
ensemblrs398122904
gopubmedrs398122904
geneviewrs398122904
scholarrs398122904
googlers398122904
pharmgkbrs398122904
gwascentralrs398122904
openSNPrs398122904
23andMers398122904
23andMe allrs398122904
SNP Nexus

SNPshotrs398122904
SNPdbers398122904
MSV3drs398122904
GWAS Ctlgrs398122904
Max Magnitude0
ClinVar
Risk rs398122904(T;T)
Alt rs398122904(T;T)
Reference rs398122904(C;C)
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.24718695G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032734.17,