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rs753798494

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs753798494(A;A)
Make rs753798494(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position24259778
GeneTGM1
is asnp
is mentioned by
dbSNPrs753798494
ebirs753798494
HLIrs753798494
Exacrs753798494
Varsomers753798494
Maprs753798494
PheGenIrs753798494
hapmaprs753798494
1000 genomesrs753798494
hgdprs753798494
ensemblrs753798494
gopubmedrs753798494
geneviewrs753798494
scholarrs753798494
googlers753798494
pharmgkbrs753798494
gwascentralrs753798494
openSNPrs753798494
23andMers753798494
23andMe allrs753798494
SNP Nexus

SNPshotrs753798494
SNPdbers753798494
MSV3drs753798494
GWAS Ctlgrs753798494
Max Magnitude0
ClinVar
Risk rs753798494(A;A)
Alt rs753798494(A;A)
Reference rs753798494(T;T)
Significance Probable-Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 0
HGVS NC_000014.8:g.24728984T>A
CLNSRC
CLNACC RCV000235007.1,