rs113993991

Orientation

minus

Stabilized

minus

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

Make rs113993991(CT;CT)

Make rs113993991(CT;TA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66994286

Gene

SBDS

is a	snp
is	mentioned by
dbSNP	rs113993991
dbSNP (classic)	rs113993991
ClinGen	rs113993991
ebi	rs113993991
HLI	rs113993991
Exac	rs113993991
Gnomad	rs113993991
Varsome	rs113993991
LitVar	rs113993991
Map	rs113993991
PheGenI	rs113993991
Biobank	rs113993991
1000 genomes	rs113993991
hgdp	rs113993991
ensembl	rs113993991
geneview	rs113993991
scholar	rs113993991
google	rs113993991
pharmgkb	rs113993991
gwascentral	rs113993991
openSNP	rs113993991
23andMe	rs113993991
SNPshot	rs113993991
SNPdbe	rs113993991
MSV3d	rs113993991
GWAS Ctlg	rs113993991

Max Magnitude

0

ClinVar
Risk	rs113993991(CT;CT)
Alt	rs113993991(CT;CT)
Reference	Rs113993991(TA;TA)
Significance	Pathogenic
Disease	Shwachman syndrome not provided
Variation	info
Gene	SBDS
CLNDBN	Shwachman syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.66459273_66459274delTAinsAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003346.4, RCV000255938.2,

[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.

[PMID 16867904] Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.