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

rs369053765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs369053765(A;A)
Make rs369053765(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position26464498
GeneHPS4
is asnp
is mentioned by
dbSNPrs369053765
dbSNP (classic)rs369053765
ClinGenrs369053765
ebirs369053765
HLIrs369053765
Exacrs369053765
Gnomadrs369053765
Varsomers369053765
LitVarrs369053765
Maprs369053765
PheGenIrs369053765
Biobankrs369053765
1000 genomesrs369053765
hgdprs369053765
ensemblrs369053765
geneviewrs369053765
scholarrs369053765
googlers369053765
pharmgkbrs369053765
gwascentralrs369053765
openSNPrs369053765
23andMers369053765
SNPshotrs369053765
SNPdbers369053765
MSV3drs369053765
GWAS Ctlgrs369053765
Max Magnitude0
ClinVar
Risk rs369053765(A;A) rs369053765(C;C)
Alt rs369053765(A;A) rs369053765(C;C)
Reference Rs369053765(G;G)
Significance Probable-Pathogenic
Disease Hermansky-Pudlak syndrome
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome
Reversed 0
HGVS NC_000022.10:g.26860464G>A
CLNSRC
CLNACC RCV000214159.1,