rs864309531

Orientation

plus

Stabilized

plus

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

Make rs864309531(G;T)

Make rs864309531(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

216423668

Gene

SMARCAL1

is a	snp
is	mentioned by
dbSNP	rs864309531
dbSNP (classic)	rs864309531
ClinGen	rs864309531
ebi	rs864309531
HLI	rs864309531
Exac	rs864309531
Gnomad	rs864309531
Varsome	rs864309531
LitVar	rs864309531
Map	rs864309531
PheGenI	rs864309531
Biobank	rs864309531
1000 genomes	rs864309531
hgdp	rs864309531
ensembl	rs864309531
geneview	rs864309531
scholar	rs864309531
google	rs864309531
pharmgkb	rs864309531
gwascentral	rs864309531
openSNP	rs864309531
23andMe	rs864309531
SNPshot	rs864309531
SNPdbe	rs864309531
MSV3d	rs864309531
GWAS Ctlg	rs864309531

Max Magnitude

0

ClinVar
Risk	rs864309531(T;T)
Alt	rs864309531(T;T)
Reference	Rs864309531(G;G)
Significance	Pathogenic
Disease	Schimke immunoosseous dysplasia
Variation	info
Gene	SMARCAL1
CLNDBN	Schimke immunoosseous dysplasia
Reversed	0
HGVS	NC_000002.11:g.217288391G>T
CLNSRC
CLNACC	RCV000202608.1,