rs869312836

Orientation

minus

Stabilized

minus

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

Make rs869312836(-;-)

Make rs869312836(-;T)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

78129204

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs869312836
dbSNP (classic)	rs869312836
ClinGen	rs869312836
ebi	rs869312836
HLI	rs869312836
Exac	rs869312836
Gnomad	rs869312836
Varsome	rs869312836
LitVar	rs869312836
Map	rs869312836
PheGenI	rs869312836
Biobank	rs869312836
1000 genomes	rs869312836
hgdp	rs869312836
ensembl	rs869312836
geneview	rs869312836
scholar	rs869312836
google	rs869312836
pharmgkb	rs869312836
gwascentral	rs869312836
openSNP	rs869312836
23andMe	rs869312836
SNPshot	rs869312836
SNPdbe	rs869312836
MSV3d	rs869312836
GWAS Ctlg	rs869312836

Max Magnitude

0

ClinVar
Risk	rs869312836(-;-)
Alt	rs869312836(-;-)
Reference	Rs869312836(T;T)
Significance	Pathogenic
Disease	Hermansky Pudlak syndrome 2
Variation	info
Gene	AP3B1
CLNDBN	Hermansky Pudlak syndrome 2
Reversed	1
HGVS	NC_000005.9:g.77425028delA
CLNSRC
CLNACC	RCV000210297.1,