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: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.700 1.000 1 2012 2012
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 1 2012 2012
dbSNP: rs10965215
rs10965215
CDKN2B-AS1
4 0.882 0.120 9 22029446 missense variant G/A snv 0.55 0.46 0.700 1.000 1 2013 2013
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: rs1303
rs1303
SERPINA1
4 0.925 0.040 14 94378506 missense variant T/G snv 0.28 0.22 0.700 1.000 1 2012 2012
dbSNP: rs751093906
rs751093906
SLC20A2
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.700 1.000 3 2011 2013
dbSNP: rs1537370
rs1537370
CDKN2B-AS1
2 1.000 9 22084311 intron variant C/T snv 0.55 0.800 1.000 3 2011 2013
dbSNP: rs2891168
rs2891168
CDKN2B-AS1
5 0.851 0.160 9 22098620 intron variant A/G snv 0.40 0.700 1.000 3 2011 2013
dbSNP: rs1004638
rs1004638
CDKN2B-AS1
3 1.000 0.040 9 22115590 intron variant A/C;T snv 0.700 1.000 2 2011 2013
dbSNP: rs10116277
rs10116277
CDKN2B-AS1
8 0.827 0.160 9 22081398 intron variant G/T snv 0.62 0.700 1.000 2 2011 2013
dbSNP: rs10511701
rs10511701
CDKN2B-AS1
2 9 22112600 intron variant T/A;C snv 0.700 1.000 2 2011 2013
dbSNP: rs10733376
rs10733376
CDKN2B-AS1
3 1.000 0.080 9 22114470 intron variant G/C snv 0.64 0.700 1.000 2 2011 2013
dbSNP: rs10738607
rs10738607
CDKN2B-AS1
4 0.925 0.080 9 22088095 intron variant A/G snv 0.42 0.700 1.000 2 2011 2013
dbSNP: rs10738609
rs10738609
CDKN2B-AS1
3 1.000 0.040 9 22114496 intron variant A/C;G;T snv 0.700 1.000 2 2011 2013
dbSNP: rs10738610
rs10738610
CDKN2B-AS1
5 0.882 0.120 9 22123767 intron variant A/C;T snv 0.700 1.000 2 2011 2013
dbSNP: rs10757269
rs10757269
CDKN2B-AS1
4 1.000 0.040 9 22072265 intron variant A/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs10757272
rs10757272
CDKN2B-AS1
6 0.851 0.160 9 22088261 intron variant C/T snv 0.41 0.700 1.000 2 2011 2013
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.700 1.000 2 2013 2013
dbSNP: rs10811647
rs10811647
CDKN2B-AS1
3 1.000 0.040 9 22065003 intron variant C/G;T snv 0.700 1.000 2 2011 2013
dbSNP: rs10811650
rs10811650
CDKN2B-AS1
5 0.882 0.200 9 22067594 intron variant A/G snv 0.37 0.700 1.000 2 2011 2013
dbSNP: rs10811651
rs10811651
CDKN2B-AS1
2 1.000 0.040 9 22067831 intron variant G/A;C snv 0.700 1.000 2 2011 2013
dbSNP: rs10965224
rs10965224
CDKN2B-AS1
2 1.000 0.040 9 22067277 intron variant T/A snv 0.64 0.700 1.000 2 2011 2013
dbSNP: rs1333039
rs1333039
CDKN2B-AS1
2 1.000 0.040 9 22065658 splice region variant G/A;C;T snv 0.700 1.000 2 2011 2013
dbSNP: rs1333042
rs1333042
CDKN2B-AS1
7 0.827 0.120 9 22103814 intron variant A/G snv 0.63 0.700 1.000 2 2011 2013