Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853105
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
BARDET-BIEDL SYNDROME 13 		0.800 1.000 0 2008 2008
dbSNP: rs137853105
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 0
dbSNP: rs137853105
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0
dbSNP: rs137853105
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0