rs387906484

Orientation

plus

Stabilized

plus

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

Make rs387906484(C;T)

Make rs387906484(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

129589905

Gene

OCRL

is a	snp
is	mentioned by
dbSNP	rs387906484
dbSNP (classic)	rs387906484
ClinGen	rs387906484
ebi	rs387906484
HLI	rs387906484
Exac	rs387906484
Gnomad	rs387906484
Varsome	rs387906484
LitVar	rs387906484
Map	rs387906484
PheGenI	rs387906484
Biobank	rs387906484
1000 genomes	rs387906484
hgdp	rs387906484
ensembl	rs387906484
geneview	rs387906484
scholar	rs387906484
google	rs387906484
pharmgkb	rs387906484
gwascentral	rs387906484
openSNP	rs387906484
23andMe	rs387906484
SNPshot	rs387906484
SNPdbe	rs387906484
MSV3d	rs387906484
GWAS Ctlg	rs387906484

Max Magnitude

0

ClinVar
Risk	rs387906484(T;T)
Alt	rs387906484(T;T)
Reference	Rs387906484(C;C)
Significance	Pathogenic
Disease	Lowe syndrome
Variation	info
Gene	OCRL
CLNDBN	Lowe syndrome
Reversed	0
HGVS	NC_000023.10:g.128723882C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011604.6,