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: rs11571818
rs11571818
BRCA2
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 2 2016 2017
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 2 2016 2017
dbSNP: rs1011970
rs1011970
CDKN2B-AS1
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10146472
rs10146472
NPAS3
1 1.000 0.080 14 33545815 intron variant A/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs10174077
rs10174077
NEB
1 1.000 0.080 2 151625198 intron variant C/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs10845498
rs10845498
LRP6
2 0.925 0.080 12 12241640 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs10849605
rs10849605
RAD52
4 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs1108581
rs1108581
DBH
3 1.000 0.080 9 133640119 intron variant A/G snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs11168936
rs11168936
TUBA1C
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs111960002
rs111960002
ZNF623
1 1.000 0.080 8 143640250 intron variant T/C snv 2.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs11200014
rs11200014
FGFR2
19 0.695 0.280 10 121575416 intron variant G/A;T snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs113855064
rs113855064
PDS5B
2 0.925 0.120 13 32601963 intron variant T/C snv 6.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs114242735
rs114242735
GPX6
1 1.000 0.080 6 28515140 intron variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs114937304
rs114937304
TSBP1 ; TSBP1-AS1
1 1.000 0.080 6 32373094 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs115392158
rs115392158
HLA-B
17 0.708 0.280 6 31347004 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs116418332
rs116418332
TRIM26
2 0.925 0.080 6 30193759 intron variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs116725014
rs116725014
MUC22
1 1.000 0.080 6 31018051 intron variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs11844632
rs11844632
RAD51B
17 0.708 0.280 14 68559662 intron variant G/A snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs12601991
rs12601991
HNF1B
17 0.708 0.280 17 37741642 intron variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs12765052
rs12765052
PKD2L1
1 1.000 0.080 10 100289222 intron variant G/T snv 7.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs13191296
rs13191296
SCGN
2 0.925 0.080 6 25684378 intron variant C/T snv 4.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs13201782
rs13201782
ZNF322
1 1.000 0.080 6 26650825 intron variant T/A snv 5.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs13213986
rs13213986
ZSCAN12
1 1.000 0.080 6 28390232 intron variant T/A snv 5.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs13220495
rs13220495
BTN3A3
3 0.925 0.160 6 26441412 intron variant C/T snv 5.3E-02 0.700 1.000 1 2017 2017