rs281865163

Orientation

minus

Stabilized

minus

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

Make rs281865163(-;CCAGCAGGGGAGGCCC)

Make rs281865163(CCAGCAGGGGAGGCCC;CCAGCAGGGGAGGCCC)

Reference

GRCh38 38.1/141

Chromosome

10

Position

98423797

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs281865163
dbSNP (classic)	rs281865163
ClinGen	rs281865163
ebi	rs281865163
HLI	rs281865163
Exac	rs281865163
Gnomad	rs281865163
Varsome	rs281865163
LitVar	rs281865163
Map	rs281865163
PheGenI	rs281865163
Biobank	rs281865163
1000 genomes	rs281865163
hgdp	rs281865163
ensembl	rs281865163
geneview	rs281865163
scholar	rs281865163
google	rs281865163
pharmgkb	rs281865163
gwascentral	rs281865163
openSNP	rs281865163
23andMe	rs281865163
SNPshot	rs281865163
SNPdbe	rs281865163
MSV3d	rs281865163
GWAS Ctlg	rs281865163

Max Magnitude

0

ClinVar
Risk	rs281865163(CCAGCAGGGGAGGCCC;CCAGCAGGGGAGGCCC)
Alt	rs281865163(CCAGCAGGGGAGGCCC;CCAGCAGGGGAGGCCC)
Reference	Rs281865163(-;-)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 1 not provided
Variation	info
Gene	HPS1
CLNDBN	Hermansky-Pudlak syndrome 1 not provided
Reversed	1
HGVS	NC_000010.10:g.100183555_100183570dup16
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005595.5, RCV000482079.1,