rs121912620

Orientation

minus

Stabilized

minus

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

Make rs121912620(C;T)

Make rs121912620(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

33944784

Gene

SLC45A2

is a	snp
is	mentioned by
dbSNP	rs121912620
dbSNP (classic)	rs121912620
ClinGen	rs121912620
ebi	rs121912620
HLI	rs121912620
Exac	rs121912620
Gnomad	rs121912620
Varsome	rs121912620
LitVar	rs121912620
Map	rs121912620
PheGenI	rs121912620
Biobank	rs121912620
1000 genomes	rs121912620
hgdp	rs121912620
ensembl	rs121912620
geneview	rs121912620
scholar	rs121912620
google	rs121912620
pharmgkb	rs121912620
gwascentral	rs121912620
openSNP	rs121912620
23andMe	rs121912620
SNPshot	rs121912620
SNPdbe	rs121912620
MSV3d	rs121912620
GWAS Ctlg	rs121912620

Max Magnitude

0

OMIM	606202
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912620(T;T)
Alt	rs121912620(T;T)
Reference	Rs121912620(C;C)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 4
Variation	info
Gene	SLC45A2
CLNDBN	Oculocutaneous albinism type 4
Reversed	1
HGVS	NC_000005.9:g.33944889G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004760.3,