rs201348482

Orientation

minus

Stabilized

minus

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

Make rs201348482(A;A)

Make rs201348482(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

45603107

Gene

BLOC1S6

is a	snp
is	mentioned by
dbSNP	rs201348482
dbSNP (classic)	rs201348482
ClinGen	rs201348482
ebi	rs201348482
HLI	rs201348482
Exac	rs201348482
Gnomad	rs201348482
Varsome	rs201348482
LitVar	rs201348482
Map	rs201348482
PheGenI	rs201348482
Biobank	rs201348482
1000 genomes	rs201348482
hgdp	rs201348482
ensembl	rs201348482
geneview	rs201348482
scholar	rs201348482
google	rs201348482
pharmgkb	rs201348482
gwascentral	rs201348482
openSNP	rs201348482
23andMe	rs201348482
SNPshot	rs201348482
SNPdbe	rs201348482
MSV3d	rs201348482
GWAS Ctlg	rs201348482

Max Magnitude

0

ClinVar
Risk	rs201348482(A;A)
Alt	rs201348482(A;A)
Reference	Rs201348482(G;G)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 9
Variation	info
Gene	BLOC1S6
CLNDBN	Hermansky-Pudlak syndrome 9
Reversed	1
HGVS	NC_000015.9:g.45895305C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023365.4,