rs1057519593

Orientation

minus

Stabilized

minus

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

Make rs1057519593(A;A)

Make rs1057519593(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

11

Position

126424898

Gene	KIRREL3, ST3GAL4

is a	snp
is	mentioned by
dbSNP	rs1057519593
dbSNP (classic)	rs1057519593
ClinGen	rs1057519593
ebi	rs1057519593
HLI	rs1057519593
Exac	rs1057519593
Gnomad	rs1057519593
Varsome	rs1057519593
LitVar	rs1057519593
Map	rs1057519593
PheGenI	rs1057519593
Biobank	rs1057519593
1000 genomes	rs1057519593
hgdp	rs1057519593
ensembl	rs1057519593
geneview	rs1057519593
scholar	rs1057519593
google	rs1057519593
pharmgkb	rs1057519593
gwascentral	rs1057519593
openSNP	rs1057519593
23andMe	rs1057519593
SNPshot	rs1057519593
SNPdbe	rs1057519593
MSV3d	rs1057519593
GWAS Ctlg	rs1057519593

Max Magnitude

0

ClinVar
Risk	rs1057519593(A;A)
Alt	rs1057519593(A;A)
Reference	Rs1057519593(G;G)
Significance	Probable-Pathogenic
Disease	Mental retardation
Variation	info
Gene	KIRREL3
CLNDBN	Mental retardation, autosomal dominant 4
Reversed	1
HGVS	NC_000011.9:g.126294793C>T
CLNSRC
CLNACC	RCV000417096.1,