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rs113993990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993990(-;-)
Make rs113993990(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position66995299
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993990
ebirs113993990
HLIrs113993990
Exacrs113993990
Varsomers113993990
Maprs113993990
PheGenIrs113993990
hapmaprs113993990
1000 genomesrs113993990
hgdprs113993990
ensemblrs113993990
gopubmedrs113993990
geneviewrs113993990
scholarrs113993990
googlers113993990
pharmgkbrs113993990
gwascentralrs113993990
openSNPrs113993990
23andMers113993990
23andMe allrs113993990
SNP Nexus

SNPshotrs113993990
SNPdbers113993990
MSV3drs113993990
GWAS Ctlgrs113993990
Max Magnitude0
ClinVar
Risk rs113993990(;)
Alt rs113993990(;)
Reference rs113993990(G;G)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS TYW1
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66460286delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020725.1,


OMIM260400
Desc
Variant
Relatedalso