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rs113993996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993996(C;T)
Make rs113993996(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66991256
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993996
ebirs113993996
HLIrs113993996
Exacrs113993996
Varsomers113993996
Maprs113993996
PheGenIrs113993996
hapmaprs113993996
1000 genomesrs113993996
hgdprs113993996
ensemblrs113993996
gopubmedrs113993996
geneviewrs113993996
scholarrs113993996
googlers113993996
pharmgkbrs113993996
gwascentralrs113993996
openSNPrs113993996
23andMers113993996
23andMe allrs113993996
SNP Nexus

SNPshotrs113993996
SNPdbers113993996
MSV3drs113993996
GWAS Ctlgrs113993996
Max Magnitude0
ClinVar
Risk rs113993996(G,T;G,T)
Alt rs113993996(G,T;G,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 ClinVar GeneReviews
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.

OMIM260400
Desc
Variant
Relatedalso