rs869312835

Orientation

minus

Stabilized

minus

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

Make rs869312835(C;G)

Make rs869312835(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

5

Position

78039150

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs869312835
dbSNP (classic)	rs869312835
ClinGen	rs869312835
ebi	rs869312835
HLI	rs869312835
Exac	rs869312835
Gnomad	rs869312835
Varsome	rs869312835
LitVar	rs869312835
Map	rs869312835
PheGenI	rs869312835
Biobank	rs869312835
1000 genomes	rs869312835
hgdp	rs869312835
ensembl	rs869312835
geneview	rs869312835
scholar	rs869312835
google	rs869312835
pharmgkb	rs869312835
gwascentral	rs869312835
openSNP	rs869312835
23andMe	rs869312835
SNPshot	rs869312835
SNPdbe	rs869312835
MSV3d	rs869312835
GWAS Ctlg	rs869312835

Max Magnitude

0

ClinVar
Risk	rs869312835(G;G)
Alt	rs869312835(G;G)
Reference	Rs869312835(C;C)
Significance	Pathogenic
Disease	Hermansky Pudlak syndrome 2
Variation	info
Gene	AP3B1
CLNDBN	Hermansky Pudlak syndrome 2
Reversed	1
HGVS	NC_000005.9:g.77334974G>C
CLNSRC
CLNACC	RCV000210287.1,