rs281865102

Orientation

plus

Stabilized

plus

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

Make rs281865102(A;C)

Make rs281865102(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

18292011

Gene

HPS5

is a	snp
is	mentioned by
dbSNP	rs281865102
dbSNP (classic)	rs281865102
ClinGen	rs281865102
ebi	rs281865102
HLI	rs281865102
Exac	rs281865102
Gnomad	rs281865102
Varsome	rs281865102
LitVar	rs281865102
Map	rs281865102
PheGenI	rs281865102
Biobank	rs281865102
1000 genomes	rs281865102
hgdp	rs281865102
ensembl	rs281865102
geneview	rs281865102
scholar	rs281865102
google	rs281865102
pharmgkb	rs281865102
gwascentral	rs281865102
openSNP	rs281865102
23andMe	rs281865102
SNPshot	rs281865102
SNPdbe	rs281865102
MSV3d	rs281865102
GWAS Ctlg	rs281865102

Max Magnitude

0

ClinVar
Risk	rs281865102(C;C)
Alt	rs281865102(C;C)
Reference	Rs281865102(A;A)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 5
Variation	info
Gene	HPS5
CLNDBN	Hermansky-Pudlak syndrome 5
Reversed	0
HGVS	NC_000011.9:g.18313558A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000021027.1,