rs61884288

plus

Geno	Mag	Summary
(A;A)	1	Likely to be benign; but was previously considered to be associated with Hermansky-Pudlak syndrome, type 5
(A;G)	1	Likely benign, actually; but formerly considered a carrier of a reported Hermansky-Pudlak mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

18281986

Gene

HPS5

is a	snp
is	mentioned by
dbSNP	rs61884288
dbSNP (classic)	rs61884288
ClinGen	rs61884288
ebi	rs61884288
HLI	rs61884288
Exac	rs61884288
Gnomad	rs61884288
Varsome	rs61884288
LitVar	rs61884288
Map	rs61884288
PheGenI	rs61884288
Biobank	rs61884288
1000 genomes	rs61884288
hgdp	rs61884288
ensembl	rs61884288
geneview	rs61884288
scholar	rs61884288
google	rs61884288
pharmgkb	rs61884288
gwascentral	rs61884288
openSNP	rs61884288
23andMe	rs61884288
SNPshot	rs61884288
SNPdbe	rs61884288
MSV3d	rs61884288
GWAS Ctlg	rs61884288

GMAF

0.01561

Max Magnitude

1

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

Present globally at a frequency of about 2% or higher, the rs61884288(A) allele (in dbSNP orientation) is now considered likely to be benign. It was previously reported to be pathogenic for Hermansky-Pudlak syndrome, type 5.[PMID 15296495 ]

ClinVar
Risk	Rs61884288(A;A)
Alt	Rs61884288(A;A)
Reference	Rs61884288(G;G)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 5 not specified Hermansky-Pudlak syndrome
Variation	info
Gene	SAA1 HPS5
CLNDBN	Hermansky-Pudlak syndrome 5 not specified Hermansky-Pudlak syndrome
Reversed	0
HGVS	NC_000011.9:g.18303533G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021032.1, RCV000150824.2, RCV000331087.1,