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rs113993993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113993993(C;C)
Make rs113993993(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position66994210
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993993
ebirs113993993
HLIrs113993993
Exacrs113993993
Varsomers113993993
Maprs113993993
PheGenIrs113993993
hapmaprs113993993
1000 genomesrs113993993
hgdprs113993993
ensemblrs113993993
gopubmedrs113993993
geneviewrs113993993
scholarrs113993993
googlers113993993
pharmgkbrs113993993
gwascentralrs113993993
openSNPrs113993993
23andMers113993993
23andMe allrs113993993
SNP Nexus

SNPshotrs113993993
SNPdbers113993993
MSV3drs113993993
GWAS Ctlgrs113993993
Max Magnitude0
OMIM607444
Desc
Variant0002
Relatedalso
ClinVar
Risk rs113993993(C;C)
Alt rs113993993(C;C)
Reference rs113993993(T;T)
Significance Other
Disease Shwachman syndrome Aplastic anemia
Variation info
Gene SBDS
CLNDBN Shwachman syndrome Aplastic anemia, susceptibility to
Reversed 1
HGVS NC_000007.13:g.66459197A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003347.3, RCV000003348.3,


[PMID 17478638OA-icon.png] Mutations in the SBDS gene in acquired aplastic anemia.