rs730880270

Orientation

minus

Stabilized

minus

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

Make rs730880270(A;A)

Make rs730880270(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

33964017

Gene

SLC45A2

is a	snp
is	mentioned by
dbSNP	rs730880270
dbSNP (classic)	rs730880270
ClinGen	rs730880270
ebi	rs730880270
HLI	rs730880270
Exac	rs730880270
Gnomad	rs730880270
Varsome	rs730880270
LitVar	rs730880270
Map	rs730880270
PheGenI	rs730880270
Biobank	rs730880270
1000 genomes	rs730880270
hgdp	rs730880270
ensembl	rs730880270
geneview	rs730880270
scholar	rs730880270
google	rs730880270
pharmgkb	rs730880270
gwascentral	rs730880270
openSNP	rs730880270
23andMe	rs730880270
SNPshot	rs730880270
SNPdbe	rs730880270
MSV3d	rs730880270
GWAS Ctlg	rs730880270

Max Magnitude

0

ClinVar
Risk	rs730880270(A;A)
Alt	rs730880270(A;A)
Reference	Rs730880270(G;G)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 4
Variation	info
Gene	SLC45A2
CLNDBN	Oculocutaneous albinism type 4
Reversed	1
HGVS	NC_000005.9:g.33964122C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004756.3,