rs145100473

Orientation

plus

Stabilized

plus

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

Make rs145100473(C;T)

Make rs145100473(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50524071

Gene	NCAPH2, SCO2

is a	snp
is	mentioned by
dbSNP	rs145100473
dbSNP (classic)	rs145100473
ClinGen	rs145100473
ebi	rs145100473
HLI	rs145100473
Exac	rs145100473
Gnomad	rs145100473
Varsome	rs145100473
LitVar	rs145100473
Map	rs145100473
PheGenI	rs145100473
Biobank	rs145100473
1000 genomes	rs145100473
hgdp	rs145100473
ensembl	rs145100473
geneview	rs145100473
scholar	rs145100473
google	rs145100473
pharmgkb	rs145100473
gwascentral	rs145100473
openSNP	rs145100473
23andMe	rs145100473
SNPshot	rs145100473
SNPdbe	rs145100473
MSV3d	rs145100473
GWAS Ctlg	rs145100473

Max Magnitude

0

ClinVar
Risk	rs145100473(T;T)
Alt	rs145100473(T;T)
Reference	Rs145100473(C;C)
Significance	Pathogenic
Disease	Myopia 6
Variation	info
Gene	SCO2 NCAPH2
CLNDBN	Myopia 6
Reversed	0
HGVS	NC_000022.10:g.50962500C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000043620.3,