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rs113993995

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993995(C;C)
Make rs113993995(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position66993299
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993995
ebirs113993995
HLIrs113993995
Exacrs113993995
Varsomers113993995
Maprs113993995
PheGenIrs113993995
hapmaprs113993995
1000 genomesrs113993995
hgdprs113993995
ensemblrs113993995
gopubmedrs113993995
geneviewrs113993995
scholarrs113993995
googlers113993995
pharmgkbrs113993995
gwascentralrs113993995
openSNPrs113993995
23andMers113993995
23andMe allrs113993995
SNP Nexus

SNPshotrs113993995
SNPdbers113993995
MSV3drs113993995
GWAS Ctlgrs113993995
Max Magnitude0
ClinVar
Risk rs113993995(C;C)
Alt rs113993995(C;C)
Reference rs113993995(G;G)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66458286C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020730.1,


OMIM260400
Desc
Variant
Relatedalso