rs121912778

Orientation

plus

Stabilized

plus

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

Make rs121912778(C;T)

Make rs121912778(T;T)

Reference

GRCh37.p5 37.3/135

Chromosome

9

Position

12704564

Gene	LURAP1L-AS1, TYRP1

is a	snp
is	mentioned by
dbSNP	rs121912778
dbSNP (classic)	rs121912778
ClinGen	rs121912778
ebi	rs121912778
HLI	rs121912778
Exac	rs121912778
Gnomad	rs121912778
Varsome	rs121912778
LitVar	rs121912778
Map	rs121912778
PheGenI	rs121912778
Biobank	rs121912778
1000 genomes	rs121912778
hgdp	rs121912778
ensembl	rs121912778
geneview	rs121912778
scholar	rs121912778
google	rs121912778
pharmgkb	rs121912778
gwascentral	rs121912778
openSNP	rs121912778
23andMe	rs121912778
SNPshot	rs121912778
SNPdbe	rs121912778
MSV3d	rs121912778
GWAS Ctlg	rs121912778

Max Magnitude

0

OMIM	115501
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912778(T;T)
Alt	rs121912778(T;T)
Reference	Rs121912778(C;C)
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.12704564C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019161.28,