Disease: MACULAR DYSTROPHY, VITELLIFORM, 5 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201893545
rs201893545 		0.925 0.080 3 101304277 missense variant A/G snv 6.4E-05 4.2E-05
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.800 1.000 3 2010 2017
dbSNP: rs713993049
rs713993049 		0.925 0.080 3 101232784 missense variant C/A snv 8.0E-06
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.800 0
dbSNP: rs1559642470
rs1559642470 		1.000 3 101242894 missense variant A/T snv
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.700 0
dbSNP: rs763295314
rs763295314 		1.000 3 101291499 stop gained A/C snv 7.0E-06
CUI: C4015343
Disease: MACULAR DYSTROPHY, VITELLIFORM, 5
MACULAR DYSTROPHY, VITELLIFORM, 5 		0.700 0