rs121908907

Orientation

minus

Stabilized

minus

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

Make rs121908907(G;T)

Make rs121908907(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

78116228

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs121908907
dbSNP (classic)	rs121908907
ClinGen	rs121908907
ebi	rs121908907
HLI	rs121908907
Exac	rs121908907
Gnomad	rs121908907
Varsome	rs121908907
LitVar	rs121908907
Map	rs121908907
PheGenI	rs121908907
Biobank	rs121908907
1000 genomes	rs121908907
hgdp	rs121908907
ensembl	rs121908907
geneview	rs121908907
scholar	rs121908907
google	rs121908907
pharmgkb	rs121908907
gwascentral	rs121908907
openSNP	rs121908907
23andMe	rs121908907
SNPshot	rs121908907
SNPdbe	rs121908907
MSV3d	rs121908907
GWAS Ctlg	rs121908907

Max Magnitude

0

OMIM	603401
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908907(T;T)
Alt	rs121908907(T;T)
Reference	Rs121908907(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.77412052C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006750.3,