rs74315513

Orientation

plus

Stabilized

plus

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

Make rs74315513(C;T)

Make rs74315513(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

23787203

Gene

SMARCB1

is a	snp
is	mentioned by
dbSNP	rs74315513
dbSNP (classic)	rs74315513
ClinGen	rs74315513
ebi	rs74315513
HLI	rs74315513
Exac	rs74315513
Gnomad	rs74315513
Varsome	rs74315513
LitVar	rs74315513
Map	rs74315513
PheGenI	rs74315513
Biobank	rs74315513
1000 genomes	rs74315513
hgdp	rs74315513
ensembl	rs74315513
geneview	rs74315513
scholar	rs74315513
google	rs74315513
pharmgkb	rs74315513
gwascentral	rs74315513
openSNP	rs74315513
23andMe	rs74315513
SNPshot	rs74315513
SNPdbe	rs74315513
MSV3d	rs74315513
GWAS Ctlg	rs74315513

Max Magnitude

0

OMIM	601607
Desc
Variant	0005
Related	also

ClinVar
Risk	rs74315513(T;T)
Alt	rs74315513(T;T)
Reference	Rs74315513(C;C)
Significance	Pathogenic
Disease	Schwannomatosis 1
Variation	info
Gene	SMARCB1
CLNDBN	Schwannomatosis 1
Reversed	0
HGVS	NC_000022.10:g.24129390C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008490.4,