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rs28937875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937875(A;A)
Make rs28937875(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position10413360
GeneMKKS
is asnp
is mentioned by
dbSNPrs28937875
ebirs28937875
HLIrs28937875
Exacrs28937875
Varsomers28937875
Maprs28937875
PheGenIrs28937875
hapmaprs28937875
1000 genomesrs28937875
hgdprs28937875
ensemblrs28937875
gopubmedrs28937875
geneviewrs28937875
scholarrs28937875
googlers28937875
pharmgkbrs28937875
gwascentralrs28937875
openSNPrs28937875
23andMers28937875
23andMe allrs28937875
SNP Nexus

SNPshotrs28937875
SNPdbers28937875
MSV3drs28937875
GWAS Ctlgrs28937875
Max Magnitude0
OMIM604896
DescBARDET-BIEDL SYNDROME 6
Variant0005
Relatedalso


ClinVar
Risk rs28937875(A;A)
Alt rs28937875(A;A)
Reference rs28937875(G;G)
Significance Pathogenic
Disease Bardet-Biedl syndrome 6
Variation info
Gene MKKS
CLNDBN Bardet-Biedl syndrome 6
Reversed 1
HGVS NC_000020.10:g.10394008C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005636.4,