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: rs2897075
rs2897075
ZKSCAN1
1 1.000 0.040 7 100032719 intron variant C/T snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs7079679
rs7079679
PKD2L1
1 1.000 0.040 10 100295789 intron variant C/A snv 0.57 0.700 1.000 1 2016 2016
dbSNP: rs2278843
rs2278843
PKD2L1
1 1.000 0.040 10 100296751 intron variant A/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs12692398
rs12692398
CYS1
2 0.925 0.080 2 10060189 intron variant G/A snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs138886989
rs138886989
GLA ; RPL36A-HNRNPH2
2 0.925 0.160 X 101401763 missense variant T/C snv 1.9E-04 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs56386186
rs56386186
WDR20
2 1.000 0.040 14 102193651 intron variant T/C snv 9.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs2071230
rs2071230
MMP1 ; WTAPP1
3 0.882 0.080 11 102790228 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs773474756
rs773474756
MMP1 ; WTAPP1
2 0.925 0.080 11 102790467 missense variant T/C snv 8.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 < 0.001 1 2016 2016
dbSNP: rs470234
rs470234
WTAPP1
2 1.000 0.040 11 102811075 intron variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs470928
rs470928
WTAPP1
2 1.000 0.040 11 102814649 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs470292
rs470292
WTAPP1
2 1.000 0.040 11 102814664 intron variant C/A snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs505987
rs505987
WTAPP1
2 1.000 0.040 11 102815179 intron variant A/G snv 0.89 0.700 1.000 1 2015 2015
dbSNP: rs475937
rs475937
WTAPP1
2 1.000 0.040 11 102816969 intron variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs520146
rs520146
WTAPP1
2 1.000 0.040 11 102819400 intron variant T/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs564018
rs564018
WTAPP1
3 0.925 0.080 11 102820688 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs688258
rs688258
WTAPP1
2 1.000 0.040 11 102821364 intron variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs595128
rs595128
WTAPP1
2 1.000 0.040 11 102822378 intron variant T/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs499459
rs499459
WTAPP1
3 0.925 0.080 11 102822455 intron variant A/G snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs611705
rs611705
WTAPP1
2 1.000 0.040 11 102823737 intron variant C/T snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs473238
rs473238
WTAPP1
2 1.000 0.040 11 102829629 intron variant T/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs553542
rs553542
WTAPP1
2 1.000 0.040 11 102830645 intron variant C/T snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs525119
rs525119
WTAPP1
2 1.000 0.040 11 102831415 intron variant G/T snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs646760
rs646760
WTAPP1
2 1.000 0.040 11 102832547 non coding transcript exon variant A/T snv 0.10 0.700 1.000 1 2015 2015