rs121908906

Orientation

minus

Stabilized

minus

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

Make rs121908906(C;T)

Make rs121908906(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

78141268

Gene

AP3B1

is a	snp
is	mentioned by
dbSNP	rs121908906
dbSNP (classic)	rs121908906
ClinGen	rs121908906
ebi	rs121908906
HLI	rs121908906
Exac	rs121908906
Gnomad	rs121908906
Varsome	rs121908906
LitVar	rs121908906
Map	rs121908906
PheGenI	rs121908906
Biobank	rs121908906
1000 genomes	rs121908906
hgdp	rs121908906
ensembl	rs121908906
geneview	rs121908906
scholar	rs121908906
google	rs121908906
pharmgkb	rs121908906
gwascentral	rs121908906
openSNP	rs121908906
23andMe	rs121908906
SNPshot	rs121908906
SNPdbe	rs121908906
MSV3d	rs121908906
GWAS Ctlg	rs121908906

Max Magnitude

0

OMIM	603401
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908906(T;T)
Alt	rs121908906(T;T)
Reference	Rs121908906(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.77437092G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006749.3,