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: rs2304277
rs2304277
OGG1 ; CAMK1
8 0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2015 2015
dbSNP: rs746702110
rs746702110
OGG1
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs79722116
rs79722116
FANCC ; AOPEP ; LOC107987102
3 0.882 0.120 9 95107192 synonymous variant C/T snv 4.6E-04 2.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs774440500
rs774440500
MRE11
2 1.000 0.120 11 94464115 frameshift variant -/T delins 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs137852761
rs137852761
MRE11
4 0.882 0.320 11 94447288 stop gained G/A snv 6.0E-05 7.0E-05 0.700 0
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.710 1.000 2 2016 2017
dbSNP: rs200389141
rs200389141
BLM
11 0.776 0.320 15 90761015 stop gained C/A;T snv 4.1E-06; 1.4E-04 1.7E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs1564570283
rs1564570283
PTEN
1 1.000 0.120 10 87965294 frameshift variant TGTACTTCACAAAAACA/- del 0.700 0
dbSNP: rs1057517809
rs1057517809
PTEN
4 0.882 0.160 10 87965286 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs146650273
rs146650273
PTEN
4 0.882 0.160 10 87961042 frameshift variant ACTT/- delins 0.700 0
dbSNP: rs1057519368
rs1057519368
PTEN
4 0.882 0.320 10 87957958 stop gained T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs1564566861
rs1564566861
PTEN
1 1.000 0.120 10 87957933 frameshift variant A/- del 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs1564838034
rs1564838034
PTEN
1 1.000 0.120 10 87952250 frameshift variant G/- delins 0.700 0
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs876660507
rs876660507
PTEN
2 1.000 0.120 10 87952134 missense variant G/T snv 0.700 0
dbSNP: rs1564830444
rs1564830444
PTEN
1 1.000 0.120 10 87933217 frameshift variant -/TT delins 0.700 0
dbSNP: rs786201044
rs786201044
PTEN
8 0.827 0.200 10 87933165 missense variant T/C snv 0.700 0
dbSNP: rs587782360
rs587782360
PTEN
5 0.851 0.280 10 87933162 missense variant A/G snv 0.700 0
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 3 2001 2010
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 3 2001 2010
dbSNP: rs398123318
rs398123318
PTEN
9 0.776 0.240 10 87925558 splice region variant AGTA/- delins 0.700 0