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rs113993998

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993998(C;T)
Make rs113993998(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66988472
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993998
ebirs113993998
HLIrs113993998
Exacrs113993998
Varsomers113993998
Maprs113993998
PheGenIrs113993998
hapmaprs113993998
1000 genomesrs113993998
hgdprs113993998
ensemblrs113993998
gopubmedrs113993998
geneviewrs113993998
scholarrs113993998
googlers113993998
pharmgkbrs113993998
gwascentralrs113993998
openSNPrs113993998
23andMers113993998
23andMe allrs113993998
SNP Nexus

SNPshotrs113993998
SNPdbers113993998
MSV3drs113993998
GWAS Ctlgrs113993998
Max Magnitude0
ClinVar
Risk rs113993998(T;T)
Alt rs113993998(T;T)
Reference rs113993998(C;C)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66453459G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020735.1,


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

OMIM260400
Desc
Variant
Relatedalso