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rs113993997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993997(C;C)
Make rs113993997(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position66991136
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993997
ebirs113993997
HLIrs113993997
Exacrs113993997
Varsomers113993997
Maprs113993997
PheGenIrs113993997
hapmaprs113993997
1000 genomesrs113993997
hgdprs113993997
ensemblrs113993997
gopubmedrs113993997
geneviewrs113993997
scholarrs113993997
googlers113993997
pharmgkbrs113993997
gwascentralrs113993997
openSNPrs113993997
23andMers113993997
23andMe allrs113993997
SNP Nexus

SNPshotrs113993997
SNPdbers113993997
MSV3drs113993997
GWAS Ctlgrs113993997
Max Magnitude0
ClinVar
Risk rs113993997(A,C;A,C)
Alt rs113993997(A,C;A,C)
Reference rs113993997(G;G)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66456123C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020732.1,


OMIM260400
Desc
Variant
Relatedalso