MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
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: rs111033178
rs111033178
0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 13 1995 2011
dbSNP: rs111033284
rs111033284
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1849265
Disease: Overgrowth
Overgrowth
0.700 1.000 13 1995 2011