rs1057516193

Orientation

minus

Stabilized

minus

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

Make rs1057516193(C;G)

Make rs1057516193(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

84017290

Gene

SLC38A8

is a	snp
is	mentioned by
dbSNP	rs1057516193
dbSNP (classic)	rs1057516193
ClinGen	rs1057516193
ebi	rs1057516193
HLI	rs1057516193
Exac	rs1057516193
Gnomad	rs1057516193
Varsome	rs1057516193
LitVar	rs1057516193
Map	rs1057516193
PheGenI	rs1057516193
Biobank	rs1057516193
1000 genomes	rs1057516193
hgdp	rs1057516193
ensembl	rs1057516193
geneview	rs1057516193
scholar	rs1057516193
google	rs1057516193
pharmgkb	rs1057516193
gwascentral	rs1057516193
openSNP	rs1057516193
23andMe	rs1057516193
SNPshot	rs1057516193
SNPdbe	rs1057516193
MSV3d	rs1057516193
GWAS Ctlg	rs1057516193

Max Magnitude

0

ClinVar
Risk	rs1057516193(G;G)
Alt	rs1057516193(G;G)
Reference	Rs1057516193(C;C)
Significance	Probable-Pathogenic
Disease	Foveal hypoplasia 2
Variation	info
Gene	SLC38A8
CLNDBN	Foveal hypoplasia 2
Reversed	1
HGVS	NC_000016.9:g.84050895G>C
CLNSRC
CLNACC	RCV000408871.1,