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rs113993994

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGA;AAGA) 0 common in clinvar
Make rs113993994(-;-)
Make rs113993994(-;AAGA)
ReferenceGRCh38 38.1/141
Chromosome7
Position66993376
GeneSBDS
is asnp
is mentioned by
dbSNPrs113993994
ebirs113993994
HLIrs113993994
Exacrs113993994
Varsomers113993994
Maprs113993994
PheGenIrs113993994
hapmaprs113993994
1000 genomesrs113993994
hgdprs113993994
ensemblrs113993994
gopubmedrs113993994
geneviewrs113993994
scholarrs113993994
googlers113993994
pharmgkbrs113993994
gwascentralrs113993994
openSNPrs113993994
23andMers113993994
23andMe allrs113993994
SNP Nexus

SNPshotrs113993994
SNPdbers113993994
MSV3drs113993994
GWAS Ctlgrs113993994
Max Magnitude0
ClinVar
Risk rs113993994(;)
Alt rs113993994(;)
Reference rs113993994(AAGA;AAGA)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66458363_66458366delTCTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020729.1,


OMIM260400
Desc
Variant
Relatedalso