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rs587777804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs587777804(-;-)
Make rs587777804(-;AGA)
ReferenceGRCh38 38.1/142
Chromosome17
Position58208156
GeneMKS1
is asnp
is mentioned by
dbSNPrs587777804
ebirs587777804
HLIrs587777804
Exacrs587777804
Varsomers587777804
Maprs587777804
PheGenIrs587777804
hapmaprs587777804
1000 genomesrs587777804
hgdprs587777804
ensemblrs587777804
gopubmedrs587777804
geneviewrs587777804
scholarrs587777804
googlers587777804
pharmgkbrs587777804
gwascentralrs587777804
openSNPrs587777804
23andMers587777804
23andMe allrs587777804
SNP Nexus

SNPshotrs587777804
SNPdbers587777804
MSV3drs587777804
GWAS Ctlgrs587777804
Max Magnitude0
ClinVar
Risk rs587777804(;)
Alt rs587777804(;)
Reference rs587777804(AGA;AGA)
Significance Pathogenic
Disease Bardet-Biedl syndrome 13
Variation info
Gene MKS1
CLNDBN Bardet-Biedl syndrome 13
Reversed 0
HGVS NC_000017.10:g.56285517_56285519delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001459.4,