Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs786201030
rs786201030
SPECC1L ; SPECC1L-ADORA2A
2 0.925 0.160 22 24322169 missense variant A/C snv 0.800 1.000 1 2015 2015
dbSNP: rs786201031
rs786201031
SPECC1L ; SPECC1L-ADORA2A
2 0.925 0.280 22 24412690 missense variant G/A snv 8.0E-06 1.4E-05 0.800 1.000 1 2015 2015
dbSNP: rs1556226291
rs1556226291
SPECC1L ; SPECC1L-ADORA2A
1 1.000 0.160 22 24322272 missense variant T/C snv 0.700 0
dbSNP: rs775422871
rs775422871
MID1
1 1.000 0.160 X 10449669 missense variant A/G snv 2.7E-05 0.010 1.000 1 2012 2012