Source: CURATED ×
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: rs11789015
rs11789015
BARX1
5 0.882 0.080 9 93953746 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs2687201
rs2687201 		5 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs2188554
rs2188554
CFTR ; ASZ1
1 1.000 0.080 7 117400063 intron variant A/G snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs4800353
rs4800353 		5 0.925 0.080 18 22074176 intergenic variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs7632500
rs7632500
LOC107986152
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs9257809
rs9257809
OR5V1 ; OR12D3
7 0.790 0.320 6 29388554 intron variant A/G snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs9823696
rs9823696 		1 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.710 1.000 1 2016 2016
dbSNP: rs4676893
rs4676893 		3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs76014404
rs76014404
KHDRBS2
1 1.000 0.080 6 61681634 intron variant AAACA/-;AAACAAAACA delins 0.20 0.700 1.000 1 2016 2016
dbSNP: rs7852462
rs7852462
TMOD1
2 0.925 0.080 9 97548219 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12465911
rs12465911 		2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs17002540
rs17002540 		1 1.000 0.080 X 140863896 intergenic variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs2342002
rs2342002 		1 1.000 0.080 6 61285855 intergenic variant C/T snv 0.23 0.800 1.000 1 2013 2013
dbSNP: rs2971030
rs2971030
LOC105375146
2 0.925 0.080 7 9966714 intron variant C/T snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs9918259
rs9918259
TPPP ; CEP72
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs199620551
rs199620551
CRTC1
2 0.925 0.080 19 18693485 intron variant G/- del 9.2E-02 0.700 1.000 1 2016 2016
dbSNP: rs13429103
rs13429103
LOC107985847
1 1.000 0.080 2 7377100 intergenic variant G/A snv 0.16 0.710 1.000 1 2018 2018
dbSNP: rs17451754
rs17451754
CFTR
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.710 1.000 1 2016 2016
dbSNP: rs17749155
rs17749155
MSRA
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs2434584
rs2434584 		1 1.000 0.080 5 58270246 intergenic variant G/A snv 0.94 0.700 1.000 1 2018 2018
dbSNP: rs2464469
rs2464469
ALDH1A2 ; LOC283665
2 0.925 0.080 15 58069827 intron variant G/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs62423175
rs62423175 		2 0.925 0.080 6 61485463 intergenic variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs75783973
rs75783973
TPPP
1 1.000 0.080 5 668194 intron variant G/A snv 2.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs1247942
rs1247942 		2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11901649
rs11901649
APOB
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019