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

rs61884288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4.4 Hermansky-Pudlak syndrome, type 5
(A;G) 3 carrier of a reported Hermansky-Pudlak mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome11
Position18281986
GeneHPS5
is asnp
is mentioned by
dbSNPrs61884288
ebirs61884288
HLIrs61884288
Exacrs61884288
Varsomers61884288
Maprs61884288
PheGenIrs61884288
hapmaprs61884288
1000 genomesrs61884288
hgdprs61884288
ensemblrs61884288
gopubmedrs61884288
geneviewrs61884288
scholarrs61884288
googlers61884288
pharmgkbrs61884288
gwascentralrs61884288
openSNPrs61884288
23andMers61884288
23andMe allrs61884288
SNP Nexus

SNPshotrs61884288
SNPdbers61884288
MSV3drs61884288
GWAS Ctlgrs61884288
GMAF0.01561
Max Magnitude4.4

rs61884288, also known as c.3293C>T, p.Thr1098Ile and T1098I, represents a variant in the HPS5 gene on chromosome 11.

Although present globally at a frequency of about 2%, the rs61884288(A) allele (in dbSNP orientation) is reported to be pathogenic for Hermansky-Pudlak syndrome, type 5.[PMID 15296495OA-icon.png]


ClinVar
Risk rs61884288(A;A)
Alt rs61884288(A;A)
Reference rs61884288(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 5 not specified
Variation info
Gene SAA1 HPS5
CLNDBN Hermansky-Pudlak syndrome 5 not specified
Reversed 0
HGVS NC_000011.9:g.18303533G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021032.1, RCV000150824.1,