rs912923677, MKKS

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
BARDET-BIEDL SYNDROME 6
CUI: C1858054
Disease: BARDET-BIEDL SYNDROME 6
21 0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06 0.700 0
Kaufman-McKusick syndrome
CUI: C0948368
Disease: Kaufman-McKusick syndrome
6 0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016