Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs199673455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 6.4 hypertriglyceridemia
(C;G) 3 Carrier of a pathogenic mutation for hypertriglyceridemia
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position50107640
GeneGPD1
is asnp
is mentioned by
dbSNPrs199673455
dbSNP (old)rs199673455
ClinGenrs199673455
ebirs199673455
HLIrs199673455
Exacrs199673455
Gnomadrs199673455
Varsomers199673455
Maprs199673455
PheGenIrs199673455
Biobankrs199673455
1000 genomesrs199673455
hgdprs199673455
ensemblrs199673455
gopubmedrs199673455
geneviewrs199673455
scholarrs199673455
googlers199673455
pharmgkbrs199673455
gwascentralrs199673455
openSNPrs199673455
23andMers199673455
23andMe allrs199673455
SNPshotrs199673455
SNPdbers199673455
MSV3drs199673455
GWAS Ctlgrs199673455
Max Magnitude6.4

GPD1 gene, c.686G>C (p.Arg229Pro)

The minor allele is reported by one source in ClinVar to be pathogenic for a transient (infantile) form of hypertriglyceridemia, normally a recessively inherited condition.

ClinVar
Risk rs199673455(A;A) Rs199673455(C;C)
Alt rs199673455(A;A) Rs199673455(C;C)
Reference Rs199673455(G;G)
Significance Pathogenic
Disease Hypertriglyceridemia
Variation info
Gene COX14 GPD1
CLNDBN Hypertriglyceridemia, transient infantile
Reversed 0
HGVS NC_000012.11:g.50501423G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144887.2,