rs113993997

Orientation

minus

Stabilized

minus

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

Make rs113993997(C;C)

Make rs113993997(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66991136

Gene

SBDS

is a	snp
is	mentioned by
dbSNP	rs113993997
dbSNP (classic)	rs113993997
ClinGen	rs113993997
ebi	rs113993997
HLI	rs113993997
Exac	rs113993997
Gnomad	rs113993997
Varsome	rs113993997
LitVar	rs113993997
Map	rs113993997
PheGenI	rs113993997
Biobank	rs113993997
1000 genomes	rs113993997
hgdp	rs113993997
ensembl	rs113993997
geneview	rs113993997
scholar	rs113993997
google	rs113993997
pharmgkb	rs113993997
gwascentral	rs113993997
openSNP	rs113993997
23andMe	rs113993997
SNPshot	rs113993997
SNPdbe	rs113993997
MSV3d	rs113993997
GWAS Ctlg	rs113993997

Max Magnitude

0

ClinVar
Risk	rs113993997(A;A) rs113993997(C;C)
Alt	rs113993997(A;A) rs113993997(C;C)
Reference	Rs113993997(G;G)
Significance	Pathogenic
Disease	Shwachman syndrome
Variation	info
Gene	SBDS
CLNDBN	Shwachman syndrome
Reversed	1
HGVS	NC_000007.13:g.66456123C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020732.1,

OMIM	260400
Desc
Variant
Related	also