rs113993990

Orientation

minus

Stabilized

minus

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

Make rs113993990(-;-)

Make rs113993990(-;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66995299

Gene	SBDS, TYW1

is a	snp
is	mentioned by
dbSNP	rs113993990
dbSNP (classic)	rs113993990
ClinGen	rs113993990
ebi	rs113993990
HLI	rs113993990
Exac	rs113993990
Gnomad	rs113993990
Varsome	rs113993990
LitVar	rs113993990
Map	rs113993990
PheGenI	rs113993990
Biobank	rs113993990
1000 genomes	rs113993990
hgdp	rs113993990
ensembl	rs113993990
geneview	rs113993990
scholar	rs113993990
google	rs113993990
pharmgkb	rs113993990
gwascentral	rs113993990
openSNP	rs113993990
23andMe	rs113993990
SNPshot	rs113993990
SNPdbe	rs113993990
MSV3d	rs113993990
GWAS Ctlg	rs113993990

Merged from

Rs886039431

Max Magnitude

0

ClinVar
Risk	rs113993990(-;-)
Alt	rs113993990(-;-)
Reference	Rs113993990(G;G)
Significance	Pathogenic
Disease	Shwachman syndrome not provided
Variation	info
Gene	SBDS TYW1
CLNDBN	Shwachman syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.66460285delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020725.1, RCV000255360.1,

OMIM	260400
Desc
Variant
Related	also