rs119473033

Orientation

plus

Stabilized

plus

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

Make rs119473033(G;T)

Make rs119473033(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

216478216

Gene

SMARCAL1

is a	snp
is	mentioned by
dbSNP	rs119473033
dbSNP (classic)	rs119473033
ClinGen	rs119473033
ebi	rs119473033
HLI	rs119473033
Exac	rs119473033
Gnomad	rs119473033
Varsome	rs119473033
LitVar	rs119473033
Map	rs119473033
PheGenI	rs119473033
Biobank	rs119473033
1000 genomes	rs119473033
hgdp	rs119473033
ensembl	rs119473033
geneview	rs119473033
scholar	rs119473033
google	rs119473033
pharmgkb	rs119473033
gwascentral	rs119473033
openSNP	rs119473033
23andMe	rs119473033
SNPshot	rs119473033
SNPdbe	rs119473033
MSV3d	rs119473033
GWAS Ctlg	rs119473033

Max Magnitude

0

OMIM	606622
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119473033(T;T)
Alt	rs119473033(T;T)
Reference	Rs119473033(G;G)
Significance	Pathogenic
Disease	Schimke immunoosseous dysplasia Atrioventricular canal defect Congenital microcephaly Decreased body weight Disproportionate short-trunk short stature Focal segmental glomerulosclerosis Microcephaly Short stature Small for gestational age Steroid-resistant nephrotic syndrome
Variation	info
Gene	SMARCAL1
CLNDBN	Schimke immunoosseous dysplasia Atrioventricular canal defect Congenital microcephaly Decreased body weight Disproportionate short-trunk short stature Focal segmental glomerulosclerosis Microcephaly Short stature Small for gestational age Steroid-resistant nephrotic syndrome
Reversed	0
HGVS	NC_000002.11:g.217342939G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004388.4, RCV000415311.1,