rs113993994

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AAGA;AAGA)	0	common in clinvar
(D;D)	0	Miscall by Ancestry

Make rs113993994(-;-)

Make rs113993994(-;AAGA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66993376

Gene

SBDS

is a	snp
is	mentioned by
dbSNP	rs113993994
dbSNP (classic)	rs113993994
ClinGen	rs113993994
ebi	rs113993994
HLI	rs113993994
Exac	rs113993994
Gnomad	rs113993994
Varsome	rs113993994
LitVar	rs113993994
Map	rs113993994
PheGenI	rs113993994
Biobank	rs113993994
1000 genomes	rs113993994
hgdp	rs113993994
ensembl	rs113993994
geneview	rs113993994
scholar	rs113993994
google	rs113993994
pharmgkb	rs113993994
gwascentral	rs113993994
openSNP	rs113993994
23andMe	rs113993994
SNPshot	rs113993994
SNPdbe	rs113993994
MSV3d	rs113993994
GWAS Ctlg	rs113993994

Max Magnitude

0

aka c.297_300delAAGA (p.Glu99Aspfs)

ClinVar
Risk	rs113993994(-;-)
Alt	rs113993994(-;-)
Reference	Rs113993994(AAGA;AAGA)
Significance	Pathogenic
Disease	Shwachman syndrome
Variation	info
Gene	SBDS
CLNDBN	Shwachman syndrome
Reversed	1
HGVS	NC_000007.13:g.66458363_66458366delTCTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020729.1,

OMIM	260400
Desc
Variant
Related	also