Source: BEFREE ×
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: rs4783099
rs4783099
CRISPLD2
6 0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs4791331
rs4791331
NTN1
3 0.925 0.120 17 9028765 intron variant C/T snv 0.53 0.010 1.000 1 2020 2020
dbSNP: rs4791774
rs4791774
NTN1
3 0.882 0.240 17 9028802 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs493760
rs493760
DROSHA
5 0.851 0.200 5 31436933 intron variant C/T snv 0.74 0.010 1.000 1 2018 2018
dbSNP: rs560426
rs560426
ABCA4
5 0.851 0.200 1 94087882 intron variant C/T snv 0.53 0.010 < 0.001 1 2010 2010
dbSNP: rs572007403
rs572007403
KISS1R
4 0.882 0.200 19 919955 missense variant C/A snv 3.3E-04 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs7043516
rs7043516
FOXE1
2 1.000 0.080 9 97855151 3 prime UTR variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs739439
rs739439
SARM1 ; SLC46A1
5 0.851 0.200 17 28396803 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs7650466
rs7650466
EPHA3
7 0.851 0.200 3 89481208 3 prime UTR variant C/T snv 0.23 0.010 1.000 1 2018 2018