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rs398122903

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398122903(-;-)
Make rs398122903(-;A)
Make rs398122903(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position24258355
GeneTGM1
is asnp
is mentioned by
dbSNPrs398122903
ebirs398122903
HLIrs398122903
Exacrs398122903
Varsomers398122903
Maprs398122903
PheGenIrs398122903
hapmaprs398122903
1000 genomesrs398122903
hgdprs398122903
ensemblrs398122903
gopubmedrs398122903
geneviewrs398122903
scholarrs398122903
googlers398122903
pharmgkbrs398122903
gwascentralrs398122903
openSNPrs398122903
23andMers398122903
23andMe allrs398122903
SNP Nexus

SNPshotrs398122903
SNPdbers398122903
MSV3drs398122903
GWAS Ctlgrs398122903
Max Magnitude0
ClinVar
Risk rs398122903(A;A)
Alt rs398122903(A;A)
Reference rs398122903(;)
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.24727562dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000032733.23,