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rs113993991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs113993991(CT;CT)
Make rs113993991(CT;TA)
ReferenceGRCh38 38.1/141
Chromosome7
Position66994286
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993991
ebirs113993991
HLIrs113993991
Exacrs113993991
Varsomers113993991
Maprs113993991
PheGenIrs113993991
hapmaprs113993991
1000 genomesrs113993991
hgdprs113993991
ensemblrs113993991
gopubmedrs113993991
geneviewrs113993991
scholarrs113993991
googlers113993991
pharmgkbrs113993991
gwascentralrs113993991
openSNPrs113993991
23andMers113993991
23andMe allrs113993991
SNP Nexus

SNPshotrs113993991
SNPdbers113993991
MSV3drs113993991
GWAS Ctlgrs113993991
Max Magnitude0
ClinVar
Risk rs113993991(CT;CT)
Alt rs113993991(CT;CT)
Reference rs113993991(TA;TA)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66459273_66459274delTAinsAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003346.3,


[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.