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: rs864309679
rs864309679
NHS
1 1.000 0.200 X 17726875 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs864309680
rs864309680
BCOR
1 1.000 0.200 X 40062174 frameshift variant TCTC/- del 0.700 1.000 1 2016 2016
dbSNP: rs864309681
rs864309681
PAX6 ; ELP4
2 0.925 0.200 11 31790816 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs864309682
rs864309682
CRYBA4 ; CRYBB1
1 1.000 0.200 22 26607953 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs864309683
rs864309683
CRYBB2
1 1.000 0.200 22 25231710 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs864309684
rs864309684
GJA8
1 1.000 0.200 1 147908040 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs864309685
rs864309685
CRYAA ; LOC107987300
1 1.000 0.200 21 43169241 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs864309686
rs864309686
PAX6
1 1.000 0.200 11 31801721 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs864309687
rs864309687
GJA3
2 0.925 0.200 13 20143029 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs864309688
rs864309688
GJA8
3 0.882 0.200 1 147908089 missense variant G/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs864309689
rs864309689
CRYGC ; LOC100507443
1 1.000 0.200 2 208128399 frameshift variant GG/A delins 0.700 1.000 1 2016 2016
dbSNP: rs864309690
rs864309690
VIM ; VIM-AS1
2 0.925 0.200 10 17229436 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs864309691
rs864309691
GJA3
2 0.925 0.200 13 20143113 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs864309692
rs864309692
MAF ; LOC101928230
1 1.000 0.200 16 79598988 synonymous variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs864309693
rs864309693
MIP
3 0.882 0.200 12 56454517 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs864309694
rs864309694
GJA3
1 1.000 0.200 13 20143282 missense variant C/G snv 0.700 1.000 1 2016 2016
dbSNP: rs864309695
rs864309695
MAF ; LOC101928230
1 1.000 0.200 16 79599023 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs864309696
rs864309696
MIP
1 1.000 0.200 12 56453080 frameshift variant -/GAATGTTCCCAGTG delins 0.700 1.000 1 2016 2016
dbSNP: rs864309700
rs864309700
CRYBB3
1 1.000 0.200 22 25207210 stop lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs864309701
rs864309701
CRYGD ; LOC100507443
1 1.000 0.200 2 208121749 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs864309702
rs864309702
BCOR
1 1.000 0.200 X 40074207 frameshift variant AACT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs864309703
rs864309703
GJA8
2 1.000 0.200 1 147908106 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs137853924
rs137853924
CRYGC ; LOC100507443
4 0.851 0.200 2 208128343 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs561449819
rs561449819
LSS ; SNORD159
2 0.925 0.200 21 46195731 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs587654743
rs587654743
GJA8 ; LOC105371229
1 1.000 0.200 1 147908787 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015