rs281865104

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs281865104(A;A)

Make rs281865104(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

18287659

Gene

HPS5

is a	snp
is	mentioned by
dbSNP	rs281865104
dbSNP (classic)	rs281865104
ClinGen	rs281865104
ebi	rs281865104
HLI	rs281865104
Exac	rs281865104
Gnomad	rs281865104
Varsome	rs281865104
LitVar	rs281865104
Map	rs281865104
PheGenI	rs281865104
Biobank	rs281865104
1000 genomes	rs281865104
hgdp	rs281865104
ensembl	rs281865104
geneview	rs281865104
scholar	rs281865104
google	rs281865104
pharmgkb	rs281865104
gwascentral	rs281865104
openSNP	rs281865104
23andMe	rs281865104
SNPshot	rs281865104
SNPdbe	rs281865104
MSV3d	rs281865104
GWAS Ctlg	rs281865104

Max Magnitude

0

ClinVar
Risk	rs281865104(A;A)
Alt	rs281865104(A;A)
Reference	Rs281865104(G;G)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 5
Variation	info
Gene	HPS5
CLNDBN	Hermansky-Pudlak syndrome 5
Reversed	0
HGVS	NC_000011.9:g.18309206G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021029.1,