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: rs61871700
rs61871700
CPN1
3 10 100068504 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1718309
rs1718309
PAH
2 12 102848618 intron variant A/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs12327057
rs12327057
LOC107985165
1 18 1051566 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs17159338
rs17159338
LINC01950
2 5 106942471 intron variant T/C snv 6.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs6498142
rs6498142
CLEC16A
3 16 10987392 intron variant C/G snv 0.77 0.700 1.000 1 2010 2010
dbSNP: rs14399
rs14399
SLC16A10
3 6 111222741 3 prime UTR variant C/A snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs2250417
rs2250417
BCO2
5 1.000 0.080 11 112214593 intron variant T/C snv 0.44 0.700 1.000 1 2013 2013
dbSNP: rs7940310
rs7940310
PAFAH1B2
3 11 117153765 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs4303899
rs4303899
LINC02024
1 3 117682524 intron variant A/G snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs41272321
rs41272321
ACAD11 ; NPHP3-ACAD11
2 3 132619502 missense variant T/C;G snv 8.6E-06; 0.11 0.700 1.000 1 2018 2018
dbSNP: rs8176740
rs8176740
ABO
2 9 133256085 missense variant A/T snv 0.25 0.25 0.700 1.000 1 2012 2012
dbSNP: rs8176732
rs8176732
ABO
3 9 133256916 intron variant A/G snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs8176728
rs8176728
ABO
3 9 133257174 intron variant G/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs2073825
rs2073825
ABO
3 9 133257320 intron variant A/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs8176717
rs8176717
ABO
3 9 133257647 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs8176714
rs8176714
ABO
4 9 133257791 intron variant G/A snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs512770
rs512770
ABO
1 9 133258116 missense variant G/A snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs641959
rs641959
ABO
4 9 133258308 intron variant A/C snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs641943
rs641943
ABO
4 9 133258323 intron variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs514708
rs514708
ABO
4 9 133258352 intron variant C/T snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs517414
rs517414
ABO
3 9 133258643 intron variant G/A snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs626035
rs626035
ABO
4 9 133259603 intron variant T/G snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs547643
rs547643
ABO
3 9 133259656 intron variant C/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs549331
rs549331
ABO
3 9 133259791 intron variant C/G snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs549446
rs549446
ABO
3 9 133259834 missense variant C/T snv 0.27 0.700 1.000 1 2012 2012