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: rs387906692
rs387906692
PRKAR1A ; FAM20A
11 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
dbSNP: rs797045905
rs797045905
RAB3GAP1 ; ZRANB3
5 0.851 0.360 2 135164629 stop gained T/G snv 0.700 0
dbSNP: rs80358205
rs80358205
GJA8 ; LOC105371229
2 0.925 0.080 1 147908548 missense variant G/A snv 0.700 0
dbSNP: rs786205221
rs786205221
MAF ; LOC101928230
4 0.851 0.200 16 79599008 missense variant G/T snv 0.020 1.000 2 2007 2014
dbSNP: rs121917735
rs121917735
MAF ; LOC101928230
3 0.882 0.080 16 79599040 missense variant C/G;T snv 4.1E-06 0.010 1.000 1 2014 2014
dbSNP: rs121917736
rs121917736
MAF ; LOC101928230
4 0.851 0.200 16 79599013 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs142869513
rs142869513
CRYBA4
2 0.925 0.200 22 26623327 stop gained C/G;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs143349894
rs143349894
CRYAA ; LOC107987300
2 0.925 0.200 21 43172168 missense variant G/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs397515625
rs397515625
CRYAA ; LOC107987300
3 0.882 0.200 21 43169160 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs587778872
rs587778872
CRYGC ; LOC100507443
6 0.807 0.200 2 208128231 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2017 2017