rs120074160

Orientation

minus

Stabilized

minus

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

Make rs120074160(A;T)

Make rs120074160(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66994286

Gene

SBDS

is a	snp
is	mentioned by
dbSNP	rs120074160
dbSNP (classic)	rs120074160
ClinGen	rs120074160
ebi	rs120074160
HLI	rs120074160
Exac	rs120074160
Gnomad	rs120074160
Varsome	rs120074160
LitVar	rs120074160
Map	rs120074160
PheGenI	rs120074160
Biobank	rs120074160
1000 genomes	rs120074160
hgdp	rs120074160
ensembl	rs120074160
geneview	rs120074160
scholar	rs120074160
google	rs120074160
pharmgkb	rs120074160
gwascentral	rs120074160
openSNP	rs120074160
23andMe	rs120074160
SNPshot	rs120074160
SNPdbe	rs120074160
MSV3d	rs120074160
GWAS Ctlg	rs120074160

Max Magnitude

0

OMIM	607444
Desc
Variant	0001
Related	also

ClinVar
Risk	rs120074160(T;T)
Alt	rs120074160(T;T)
Reference	Rs120074160(A;A)
Significance	Pathogenic
Disease	Shwachman syndrome
Variation	info
Gene	SBDS
CLNDBN	Shwachman syndrome
Reversed	1
HGVS	NC_000007.13:g.66459273T>A
CLNSRC	OMIM Allelic Variant GeneReviews
CLNACC	SCV000023504.1, SCV000023504.1, SCV000041300.1, SCV000041300.1,