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rs398122902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGCCTGT;GGCCTGT) 0 common in clinvar
Make rs398122902(-;-)
Make rs398122902(-;GGCCTGT)
ReferenceGRCh38 38.1/141
Chromosome14
Position24254970
GeneTGM1
is asnp
is mentioned by
dbSNPrs398122902
ebirs398122902
HLIrs398122902
Exacrs398122902
Varsomers398122902
Maprs398122902
PheGenIrs398122902
hapmaprs398122902
1000 genomesrs398122902
hgdprs398122902
ensemblrs398122902
gopubmedrs398122902
geneviewrs398122902
scholarrs398122902
googlers398122902
pharmgkbrs398122902
gwascentralrs398122902
openSNPrs398122902
23andMers398122902
23andMe allrs398122902
SNP Nexus

SNPshotrs398122902
SNPdbers398122902
MSV3drs398122902
GWAS Ctlgrs398122902
Max Magnitude0
ClinVar
Risk rs398122902(;)
Alt rs398122902(;)
Reference rs398122902(GGCCTGT;GGCCTGT)
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.24724176_24724182delACAGGCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032732.17,