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rs397514524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514524(C;T)
Make rs397514524(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24261827
GeneTGM1
is asnp
is mentioned by
dbSNPrs397514524
ebirs397514524
HLIrs397514524
Exacrs397514524
Varsomers397514524
Maprs397514524
PheGenIrs397514524
hapmaprs397514524
1000 genomesrs397514524
hgdprs397514524
ensemblrs397514524
gopubmedrs397514524
geneviewrs397514524
scholarrs397514524
googlers397514524
pharmgkbrs397514524
gwascentralrs397514524
openSNPrs397514524
23andMers397514524
23andMe allrs397514524
SNP Nexus

SNPshotrs397514524
SNPdbers397514524
MSV3drs397514524
GWAS Ctlgrs397514524
Max Magnitude0
ClinVar
Risk rs397514524(T;T)
Alt rs397514524(T;T)
Reference rs397514524(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.24731033G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032726.26,