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: 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: rs116046250
rs116046250
GABRG3
1 1.000 0.040 15 26986803 intron variant T/G snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs13113999
rs13113999 		1 1.000 0.040 4 166265894 intergenic variant T/G snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs79079890
rs79079890
LOC105376360 ; LOC107984193
1 1.000 0.040 10 3641956 intergenic variant T/G snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs4808075
rs4808075
BABAM1 ; USHBP1
18 0.701 0.280 19 17279482 intron variant T/C snv 0.26 0.700 1.000 2 2016 2017
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 1 2016 2016
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs192876988
rs192876988
LOC105377300
4 0.851 0.120 4 79376097 intergenic variant T/C snv 1.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs6005807
rs6005807
TTC28 ; LOC101929594
2 0.925 0.120 22 28538325 intron variant T/C snv 0.89 0.700 1.000 1 2017 2017
dbSNP: rs7207826
rs7207826
SKAP1
2 0.925 0.120 17 48423311 intron variant T/C snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs8037137
rs8037137
RCCD1
8 0.807 0.160 15 90963407 upstream gene variant T/C snv 0.19 0.700 1.000 1 2017 2017
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: rs6755777
rs6755777
HAGLR ; HAGLROS
3 0.882 0.120 2 176178498 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 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: 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: rs1862626
rs1862626 		17 0.708 0.280 5 56737113 regulatory region variant G/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs2300206
rs2300206
RALY
17 0.708 0.280 20 34002002 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs58722170
rs58722170
RSPO1
2 0.925 0.120 1 37630749 intron variant G/C snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs190220654
rs190220654
SLK
1 1.000 0.040 10 104002988 missense variant G/C snv 1.2E-04 4.2E-05 0.700 0
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
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: rs62274041
rs62274041 		3 0.925 0.120 3 156717851 upstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs2974935
rs2974935
MTX1
17 0.708 0.280 1 155212052 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016