Have questions? Visit https://www.reddit.com/r/SNPedia

rs713998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs713998(C;C)
Make rs713998(C;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position26466246
GeneHPS4
is asnp
is mentioned by
dbSNPrs713998
dbSNP (classic)rs713998
ClinGenrs713998
ebirs713998
HLIrs713998
Exacrs713998
Gnomadrs713998
Varsomers713998
LitVarrs713998
Maprs713998
PheGenIrs713998
Biobankrs713998
1000 genomesrs713998
hgdprs713998
ensemblrs713998
geneviewrs713998
scholarrs713998
googlers713998
pharmgkbrs713998
gwascentralrs713998
openSNPrs713998
23andMers713998
SNPshotrs713998
SNPdbers713998
MSV3drs713998
GWAS Ctlgrs713998
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 23563589] An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients


ClinVar
Risk rs713998(C;C)
Alt rs713998(C;C)
Reference Rs713998(T;T)
Significance Non-pathogenic
Disease not specified Hermansky-Pudlak syndrome
Variation info
Gene HPS4
CLNDBN not specified Hermansky-Pudlak syndrome
Reversed 0
HGVS NC_000022.10:g.26862212T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000150822.2, RCV000260978.1,