rs1057518802

Orientation

plus

Stabilized

plus

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

Make rs1057518802(C;T)

Make rs1057518802(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

45509554

Gene	COL18A1, SLC19A1

is a	snp
is	mentioned by
dbSNP	rs1057518802
dbSNP (classic)	rs1057518802
ClinGen	rs1057518802
ebi	rs1057518802
HLI	rs1057518802
Exac	rs1057518802
Gnomad	rs1057518802
Varsome	rs1057518802
LitVar	rs1057518802
Map	rs1057518802
PheGenI	rs1057518802
Biobank	rs1057518802
1000 genomes	rs1057518802
hgdp	rs1057518802
ensembl	rs1057518802
geneview	rs1057518802
scholar	rs1057518802
google	rs1057518802
pharmgkb	rs1057518802
gwascentral	rs1057518802
openSNP	rs1057518802
23andMe	rs1057518802
SNPshot	rs1057518802
SNPdbe	rs1057518802
MSV3d	rs1057518802
GWAS Ctlg	rs1057518802

Max Magnitude

0

ClinVar
Risk	rs1057518802(T;T)
Alt	rs1057518802(T;T)
Reference	Rs1057518802(C;C)
Significance	Probable-Pathogenic
Disease	Cataract Nystagmus Retinal dystrophy Severe Myopia
Variation	info
Gene	COL18A1
CLNDBN	Cataract Nystagmus Retinal dystrophy Severe Myopia
Reversed	0
HGVS	NC_000021.8:g.46929468C>T
CLNSRC
CLNACC	RCV000415261.1,