rs1057519594

Orientation

plus

Stabilized

plus

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

Make rs1057519594(-;T)

Make rs1057519594(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

44951356

Gene

SETBP1

is a	snp
is	mentioned by
dbSNP	rs1057519594
dbSNP (classic)	rs1057519594
ClinGen	rs1057519594
ebi	rs1057519594
HLI	rs1057519594
Exac	rs1057519594
Gnomad	rs1057519594
Varsome	rs1057519594
LitVar	rs1057519594
Map	rs1057519594
PheGenI	rs1057519594
Biobank	rs1057519594
1000 genomes	rs1057519594
hgdp	rs1057519594
ensembl	rs1057519594
geneview	rs1057519594
scholar	rs1057519594
google	rs1057519594
pharmgkb	rs1057519594
gwascentral	rs1057519594
openSNP	rs1057519594
23andMe	rs1057519594
SNPshot	rs1057519594
SNPdbe	rs1057519594
MSV3d	rs1057519594
GWAS Ctlg	rs1057519594

Max Magnitude

0

ClinVar
Risk	rs1057519594(T;T)
Alt	rs1057519594(T;T)
Reference	Rs1057519594(-;-)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SETBP1
CLNDBN	Mental retardation, autosomal dominant 29
Reversed	0
HGVS	NC_000018.9:g.42531321_42531322insT
CLNSRC
CLNACC	RCV000417091.1,