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rs113993992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993992(C;C)
Make rs113993992(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position66994211
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993992
ebirs113993992
HLIrs113993992
Exacrs113993992
Varsomers113993992
Maprs113993992
PheGenIrs113993992
hapmaprs113993992
1000 genomesrs113993992
hgdprs113993992
ensemblrs113993992
gopubmedrs113993992
geneviewrs113993992
scholarrs113993992
googlers113993992
pharmgkbrs113993992
gwascentralrs113993992
openSNPrs113993992
23andMers113993992
23andMe allrs113993992
SNP Nexus

SNPshotrs113993992
SNPdbers113993992
MSV3drs113993992
GWAS Ctlgrs113993992
Max Magnitude0
ClinVar
Risk rs113993992(C;C)
Alt rs113993992(C;C)
Reference rs113993992(G;G)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66459198C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020728.1,


[PMID 15284109] Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

OMIM260400
Desc
Variant
Relatedalso