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rs730882120

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882120(A;G)
Make rs730882120(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position58207110
GeneMKS1
is asnp
is mentioned by
dbSNPrs730882120
ebirs730882120
HLIrs730882120
Exacrs730882120
Varsomers730882120
Maprs730882120
PheGenIrs730882120
hapmaprs730882120
1000 genomesrs730882120
hgdprs730882120
ensemblrs730882120
gopubmedrs730882120
geneviewrs730882120
scholarrs730882120
googlers730882120
pharmgkbrs730882120
gwascentralrs730882120
openSNPrs730882120
23andMers730882120
23andMe allrs730882120
SNP Nexus

SNPshotrs730882120
SNPdbers730882120
MSV3drs730882120
GWAS Ctlgrs730882120
Max Magnitude0
ClinVar
Risk rs730882120(G;G)
Alt rs730882120(G;G)
Reference rs730882120(A;A)
Significance Pathogenic
Disease Bardet-Biedl syndrome 13
Variation info
Gene MKS1
CLNDBN Bardet-Biedl syndrome 13
Reversed 1
HGVS NC_000017.10:g.56284471T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000161134.3,