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rs397514522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514522(C;T)
Make rs397514522(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24255155
GeneTGM1
is asnp
is mentioned by
dbSNPrs397514522
ebirs397514522
HLIrs397514522
Exacrs397514522
Varsomers397514522
Maprs397514522
PheGenIrs397514522
hapmaprs397514522
1000 genomesrs397514522
hgdprs397514522
ensemblrs397514522
gopubmedrs397514522
geneviewrs397514522
scholarrs397514522
googlers397514522
pharmgkbrs397514522
gwascentralrs397514522
openSNPrs397514522
23andMers397514522
23andMe allrs397514522
SNP Nexus

SNPshotrs397514522
SNPdbers397514522
MSV3drs397514522
GWAS Ctlgrs397514522
Max Magnitude0
ClinVar
Risk rs397514522(T;T)
Alt rs397514522(T;T)
Reference rs397514522(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.24724361G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032721.24,