rs869312837

Orientation

minus

Stabilized

minus

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

Make rs869312837(A;A)

Make rs869312837(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

78216125

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs869312837
dbSNP (classic)	rs869312837
ClinGen	rs869312837
ebi	rs869312837
HLI	rs869312837
Exac	rs869312837
Gnomad	rs869312837
Varsome	rs869312837
LitVar	rs869312837
Map	rs869312837
PheGenI	rs869312837
Biobank	rs869312837
1000 genomes	rs869312837
hgdp	rs869312837
ensembl	rs869312837
geneview	rs869312837
scholar	rs869312837
google	rs869312837
pharmgkb	rs869312837
gwascentral	rs869312837
openSNP	rs869312837
23andMe	rs869312837
SNPshot	rs869312837
SNPdbe	rs869312837
MSV3d	rs869312837
GWAS Ctlg	rs869312837

Max Magnitude

0

ClinVar
Risk	rs869312837(A;A)
Alt	rs869312837(A;A)
Reference	Rs869312837(G;G)
Significance	Pathogenic
Disease	Hermansky Pudlak syndrome 2
Variation	info
Gene	AP3B1
CLNDBN	Hermansky Pudlak syndrome 2
Reversed	1
HGVS	NC_000005.9:g.77511949C>T
CLNSRC
CLNACC	RCV000210320.1,