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rs202037016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202037016(C;T)
Make rs202037016(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259159
GeneTGM1
is asnp
is mentioned by
dbSNPrs202037016
dbSNP (classic)rs202037016
ClinGenrs202037016
ebirs202037016
HLIrs202037016
Exacrs202037016
Gnomadrs202037016
Varsomers202037016
LitVarrs202037016
Maprs202037016
PheGenIrs202037016
Biobankrs202037016
1000 genomesrs202037016
hgdprs202037016
ensemblrs202037016
geneviewrs202037016
scholarrs202037016
googlers202037016
pharmgkbrs202037016
gwascentralrs202037016
openSNPrs202037016
23andMers202037016
SNPshotrs202037016
SNPdbers202037016
MSV3drs202037016
GWAS Ctlgrs202037016
Max Magnitude0
ClinVar
Risk rs202037016(T;T)
Alt rs202037016(T;T)
Reference Rs202037016(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 0
HGVS NC_000014.8:g.24728365C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032730.24,