rs387906562

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AACA;AACA)	0	common in clinvar
(ACAA;ACAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs387906562(-;-)

Make rs387906562(-;AACA)

Reference

GRCh37.p10 37.5/138

Chromosome

9

Position

12702414

Gene	LURAP1L-AS1, TYRP1

is a	snp
is	mentioned by
dbSNP	rs387906562
dbSNP (classic)	rs387906562
ClinGen	rs387906562
ebi	rs387906562
HLI	rs387906562
Exac	rs387906562
Gnomad	rs387906562
Varsome	rs387906562
LitVar	rs387906562
Map	rs387906562
PheGenI	rs387906562
Biobank	rs387906562
1000 genomes	rs387906562
hgdp	rs387906562
ensembl	rs387906562
geneview	rs387906562
scholar	rs387906562
google	rs387906562
pharmgkb	rs387906562
gwascentral	rs387906562
openSNP	rs387906562
23andMe	rs387906562
SNPshot	rs387906562
SNPdbe	rs387906562
MSV3d	rs387906562
GWAS Ctlg	rs387906562

Max Magnitude

0

ClinVar
Risk	rs387906562(-;-) Rs387906562(ACAA;ACAA)
Alt	rs387906562(-;-) Rs387906562(ACAA;ACAA)
Reference	Rs387906562(AACA;AACA)
Significance	Pathogenic
Disease	Oculocutaneous albinism type 3
Variation	info
Gene	TYRP1 LURAP1L-AS1
CLNDBN	Oculocutaneous albinism type 3
Reversed	0
HGVS	NC_000009.11:g.12702414_12702417delAACA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019164.25,