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rs397514523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514523(A;A)
Make rs397514523(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259990
GeneTGM1
is asnp
is mentioned by
dbSNPrs397514523
ebirs397514523
HLIrs397514523
Exacrs397514523
Varsomers397514523
Maprs397514523
PheGenIrs397514523
hapmaprs397514523
1000 genomesrs397514523
hgdprs397514523
ensemblrs397514523
gopubmedrs397514523
geneviewrs397514523
scholarrs397514523
googlers397514523
pharmgkbrs397514523
gwascentralrs397514523
openSNPrs397514523
23andMers397514523
23andMe allrs397514523
SNP Nexus

SNPshotrs397514523
SNPdbers397514523
MSV3drs397514523
GWAS Ctlgrs397514523
Max Magnitude0
ClinVar
Risk rs397514523(A;A)
Alt rs397514523(A;A)
Reference rs397514523(T;T)
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.24729196A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032725.24,