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rs397514525

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514525(C;T)
Make rs397514525(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259745
GeneTGM1
is asnp
is mentioned by
dbSNPrs397514525
ebirs397514525
HLIrs397514525
Exacrs397514525
Varsomers397514525
Maprs397514525
PheGenIrs397514525
hapmaprs397514525
1000 genomesrs397514525
hgdprs397514525
ensemblrs397514525
gopubmedrs397514525
geneviewrs397514525
scholarrs397514525
googlers397514525
pharmgkbrs397514525
gwascentralrs397514525
openSNPrs397514525
23andMers397514525
23andMe allrs397514525
SNP Nexus

SNPshotrs397514525
SNPdbers397514525
MSV3drs397514525
GWAS Ctlgrs397514525
Max Magnitude0
ClinVar
Risk rs397514525(T;T)
Alt rs397514525(T;T)
Reference rs397514525(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.24728951G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032727.25,