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rs398122905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACACA;ACACA) 0 common in clinvar
Make rs398122905(-;-)
Make rs398122905(-;ACACA)
ReferenceGRCh38 38.1/141
Chromosome14
Position24258606
GeneTGM1
is asnp
is mentioned by
dbSNPrs398122905
ebirs398122905
HLIrs398122905
Exacrs398122905
Varsomers398122905
Maprs398122905
PheGenIrs398122905
hapmaprs398122905
1000 genomesrs398122905
hgdprs398122905
ensemblrs398122905
gopubmedrs398122905
geneviewrs398122905
scholarrs398122905
googlers398122905
pharmgkbrs398122905
gwascentralrs398122905
openSNPrs398122905
23andMers398122905
23andMe allrs398122905
SNP Nexus

SNPshotrs398122905
SNPdbers398122905
MSV3drs398122905
GWAS Ctlgrs398122905
Max Magnitude0
ClinVar
Risk rs398122905(;)
Alt rs398122905(;)
Reference rs398122905(ACACA;ACACA)
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.24727812_24727816delTGTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000032735.25,