rs113993996

Orientation

minus

Stabilized

minus

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

Make rs113993996(C;T)

Make rs113993996(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66991256

Gene

SBDS

is a	snp
is	mentioned by
dbSNP	rs113993996
dbSNP (classic)	rs113993996
ClinGen	rs113993996
ebi	rs113993996
HLI	rs113993996
Exac	rs113993996
Gnomad	rs113993996
Varsome	rs113993996
LitVar	rs113993996
Map	rs113993996
PheGenI	rs113993996
Biobank	rs113993996
1000 genomes	rs113993996
hgdp	rs113993996
ensembl	rs113993996
geneview	rs113993996
scholar	rs113993996
google	rs113993996
pharmgkb	rs113993996
gwascentral	rs113993996
openSNP	rs113993996
23andMe	rs113993996
SNPshot	rs113993996
SNPdbe	rs113993996
MSV3d	rs113993996
GWAS Ctlg	rs113993996

Max Magnitude

0

ClinVar
Risk	rs113993996(G;G) rs113993996(T;T)
Alt	rs113993996(G;G) rs113993996(T;T)
Reference	Rs113993996(C;C)
Significance	Pathogenic
Disease	Shwachman syndrome
Variation	info
Gene	SBDS
CLNDBN	Shwachman syndrome
Reversed	1
HGVS	NC_000007.13:g.66456243G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020731.1,

[PMID 12496757] Mutations in SBDS are associated with Shwachman-Diamond syndrome.

[PMID 15284109] Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

OMIM	260400
Desc
Variant
Related	also