rs606231156

Orientation

minus

Stabilized

minus

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

Make rs606231156(-;G)

Make rs606231156(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

10

Position

98427239

Gene

HPS1

is a	snp
is	mentioned by
dbSNP	rs606231156
dbSNP (classic)	rs606231156
ClinGen	rs606231156
ebi	rs606231156
HLI	rs606231156
Exac	rs606231156
Gnomad	rs606231156
Varsome	rs606231156
LitVar	rs606231156
Map	rs606231156
PheGenI	rs606231156
Biobank	rs606231156
1000 genomes	rs606231156
hgdp	rs606231156
ensembl	rs606231156
geneview	rs606231156
scholar	rs606231156
google	rs606231156
pharmgkb	rs606231156
gwascentral	rs606231156
openSNP	rs606231156
23andMe	rs606231156
SNPshot	rs606231156
SNPdbe	rs606231156
MSV3d	rs606231156
GWAS Ctlg	rs606231156

Max Magnitude

0

ClinVar
Risk	rs606231156(G;G)
Alt	rs606231156(G;G)
Reference	Rs606231156(-;-)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 1
Variation	info
Gene	HPS1
CLNDBN	Hermansky-Pudlak syndrome 1
Reversed	1
HGVS	NC_000010.10:g.100186997dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005600.5,