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: rs751093906
rs751093906
SLC20A2
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs2390582
rs2390582
LOC105378851
1 1 90478350 intergenic variant A/G snv 0.15 0.800 1.000 1 2007 2007
dbSNP: rs1008878
rs1008878
CDKN2B-AS1
2 1.000 0.040 9 22036113 non coding transcript exon variant G/T snv 0.71 0.700 1.000 1 2011 2011
dbSNP: rs1063192
rs1063192
CDKN2B ; CDKN2B-AS1
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10738604
rs10738604
CDKN2B-AS1
3 1.000 0.040 9 22025494 intron variant G/A snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs10807323
rs10807323
PHACTR1
1 6 12794799 intron variant G/A snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs10811641
rs10811641
CDKN2B-AS1
2 1.000 0.040 9 22014138 non coding transcript exon variant C/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs1333037
rs1333037
CDKN2B-AS1
3 0.925 0.040 9 22040766 intron variant C/T snv 0.71 0.700 1.000 1 2011 2011
dbSNP: rs1333040
rs1333040
CDKN2B-AS1
15 0.732 0.280 9 22083405 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1333045
rs1333045
CDKN2B-AS1
14 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1333050
rs1333050
CDKN2B-AS1
1 9 22125914 intron variant C/T snv 0.50 0.700 1.000 1 2011 2011
dbSNP: rs1360589
rs1360589
CDKN2B-AS1
2 1.000 0.040 9 22045318 intron variant C/T snv 0.72 0.700 1.000 1 2011 2011
dbSNP: rs1412829
rs1412829
CDKN2B-AS1
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs2026458
rs2026458
PHACTR1
6 0.882 0.080 6 12825642 intron variant C/T snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs2069418
rs2069418
CDKN2B ; CDKN2B-AS1
2 1.000 0.040 9 22009699 intron variant G/C snv 0.70 0.700 1.000 1 2011 2011
dbSNP: rs3218020
rs3218020
CDKN2B-AS1
5 0.882 0.120 9 21997873 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs3809346
rs3809346
COL4A1 ; COL4A2
2 1.000 0.080 13 110308596 intron variant G/A;C snv 0.800 1.000 1 2011 2011
dbSNP: rs4711863
rs4711863
PHACTR1
1 6 12915185 intron variant G/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs523096
rs523096
CDKN2B-AS1
7 0.827 0.080 9 22019130 intron variant A/G snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs543830
rs543830
CDKN2B-AS1
2 1.000 0.040 9 22026640 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs564398
rs564398
CDKN2B-AS1
18 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 0.700 1.000 1 2011 2011
dbSNP: rs615552
rs615552
CDKN2B-AS1
4 0.925 0.120 9 22026078 intron variant T/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs634537
rs634537
CDKN2B-AS1
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs6475608
rs6475608
CDKN2B-AS1
2 1.000 0.080 9 22101703 intron variant T/C snv 0.60 0.700 1.000 1 2011 2011
dbSNP: rs679038
rs679038
CDKN2B-AS1
2 1.000 0.040 9 22029081 intron variant G/A;T snv 0.700 1.000 1 2011 2011