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: rs398123033
rs398123033 		1.000 19 6364517 missense variant A/C;G snv 4.1E-06
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.700 1.000 1 2013 2013
dbSNP: rs398123034
rs398123034 		1.000 19 6364524 missense variant G/A;C snv 8.1E-06
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.700 1.000 1 2013 2013
dbSNP: rs1555719766
rs1555719766 		1.000 19 6366326 missense variant C/G snv
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.700 0
dbSNP: rs398123035
rs398123035 		1.000 19 6361944 splice region variant A/G snv
CUI: C3808414
Disease: PERRAULT SYNDROME 3
PERRAULT SYNDROME 3 		0.700 0