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rs120074160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074160(A;T)
Make rs120074160(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position66994286
GeneSBDS
is asnp
is mentioned by
dbSNPrs120074160
ebirs120074160
HLIrs120074160
Exacrs120074160
Varsomers120074160
Maprs120074160
PheGenIrs120074160
hapmaprs120074160
1000 genomesrs120074160
hgdprs120074160
ensemblrs120074160
gopubmedrs120074160
geneviewrs120074160
scholarrs120074160
googlers120074160
pharmgkbrs120074160
gwascentralrs120074160
openSNPrs120074160
23andMers120074160
23andMe allrs120074160
SNP Nexus

SNPshotrs120074160
SNPdbers120074160
MSV3drs120074160
GWAS Ctlgrs120074160
Max Magnitude0
OMIM607444
Desc
Variant0001
Relatedalso
ClinVar
Risk rs120074160(T;T)
Alt rs120074160(T;T)
Reference rs120074160(A;A)
Significance Pathogenic
Disease Shwachman syndrome
Variation info
Gene SBDS
CLNDBN Shwachman syndrome
Reversed 1
HGVS NC_000007.13:g.66459273T>A
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000023504.1, SCV000023504.1, SCV000041300.1, SCV000041300.1,