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rs112368783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112368783(-;-)
Make rs112368783(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position28659090
GenePOMP
is asnp
is mentioned by
dbSNPrs112368783
dbSNP (old)rs112368783
ClinGenrs112368783
ebirs112368783
HLIrs112368783
Exacrs112368783
Varsomers112368783
Maprs112368783
PheGenIrs112368783
Biobankrs112368783
1000 genomesrs112368783
hgdprs112368783
ensemblrs112368783
gopubmedrs112368783
geneviewrs112368783
scholarrs112368783
googlers112368783
pharmgkbrs112368783
gwascentralrs112368783
openSNPrs112368783
23andMers112368783
23andMe allrs112368783
SNP Nexus

SNPshotrs112368783
SNPdbers112368783
MSV3drs112368783
GWAS Ctlgrs112368783
Max Magnitude0
ClinVar
Risk rs112368783(-;-)
Alt rs112368783(-;-)
Reference Rs112368783(C;C)
Significance Pathogenic
Disease Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Variation info
Gene POMP
CLNDBN Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Reversed 0
HGVS NC_000013.10:g.29233227delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000136.2,