rs397507169

Orientation

minus

Stabilized

minus

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

Make rs397507169(-;GA)

Make rs397507169(GA;GA)

Reference

GRCh38 38.1/141

Chromosome

11

Position

18285367

Gene

HPS5

is a	snp
is	mentioned by
dbSNP	rs397507169
dbSNP (classic)	rs397507169
ClinGen	rs397507169
ebi	rs397507169
HLI	rs397507169
Exac	rs397507169
Gnomad	rs397507169
Varsome	rs397507169
LitVar	rs397507169
Map	rs397507169
PheGenI	rs397507169
Biobank	rs397507169
1000 genomes	rs397507169
hgdp	rs397507169
ensembl	rs397507169
geneview	rs397507169
scholar	rs397507169
google	rs397507169
pharmgkb	rs397507169
gwascentral	rs397507169
openSNP	rs397507169
23andMe	rs397507169
SNPshot	rs397507169
SNPdbe	rs397507169
MSV3d	rs397507169
GWAS Ctlg	rs397507169

Max Magnitude

0

ClinVar
Risk	rs397507169(GA;GA)
Alt	rs397507169(GA;GA)
Reference	Rs397507169(-;-)
Significance	Pathogenic
Disease	Hermansky-Pudlak syndrome 5
Variation	info
Gene	SAA1 HPS5
CLNDBN	Hermansky-Pudlak syndrome 5
Reversed	1
HGVS	NC_000011.9:g.18306915_18306916dupTC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021031.1,