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: rs10857147
rs10857147 		9 1.000 0.040 4 80259918 intergenic variant A/T snv 0.25 0.700 1.000 3 2018 2019
dbSNP: rs626277
rs626277
DACH1
5 1.000 0.080 13 71773564 intron variant A/C snv 0.51 0.700 1.000 2 2019 2019
dbSNP: rs10109414
rs10109414 		5 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10223666
rs10223666
LOC105375069 ; LOC107986598
3 1.000 0.040 6 43837765 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11066453
rs11066453
OAS1
4 1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs11554266
rs11554266
GNAS
4 1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 0.700 1.000 1 2018 2018
dbSNP: rs11949767
rs11949767
MXD3
3 1.000 0.080 5 177313243 upstream gene variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12423664
rs12423664
FBRSL1
6 1.000 0.040 12 132493308 intron variant G/A snv 0.10 0.700 1.000 1 2019 2019
dbSNP: rs12801636
rs12801636
PCNX3
5 1.000 0.040 11 65623846 intron variant G/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs13226650
rs13226650
MLXIPL
3 1.000 0.040 7 73602675 intron variant A/G snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs13230625
rs13230625 		3 1.000 0.080 7 1246608 regulatory region variant G/A snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs13241427
rs13241427 		6 1.000 7 1249003 regulatory region variant G/T snv 0.72 0.700 1.000 1 2015 2015
dbSNP: rs138551969
rs138551969
VEGFA
4 1.000 0.040 6 43780749 missense variant A/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs139428292
rs139428292
RBM8A ; LIX1L-AS1
2 1.000 0.120 1 145927447 5 prime UTR variant C/A;T snv 4.2E-06; 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs142085340
rs142085340
SIPA1L3
3 1.000 0.080 19 38106538 splice region variant C/T snv 9.1E-05 3.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs143231463
rs143231463
RREB1
3 1.000 0.040 6 7226577 missense variant A/G snv 1.8E-04 2.1E-04 0.700 1.000 1 2018 2018
dbSNP: rs143583842
rs143583842
UMOD
2 1.000 0.040 16 20341262 missense variant G/A;T snv 7.4E-04; 1.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs151305324
rs151305324
TMEM171
3 1.000 0.040 5 73123606 missense variant G/A snv 6.8E-05; 8.0E-06 9.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs174455
rs174455
FADS3
5 1.000 0.080 11 61888645 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs187355703
rs187355703
HOXD8 ; LOC100129455 ; HOXD-AS2
4 1.000 0.080 2 176128855 intron variant C/G snv 1.5E-02 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs199897813
rs199897813
ABCG2
2 1.000 0.040 4 88094576 splice donor variant C/A;T snv 5.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs200933617
rs200933617
NFAT5
3 1.000 0.040 16 69647162 missense variant G/A snv 8.2E-04 6.7E-04 0.700 1.000 1 2018 2018
dbSNP: rs201874364
rs201874364
ETV5
4 1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs202007714
rs202007714
LRIG1 ; SLC25A26
4 1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs2076211
rs2076211
PNPLA3
3 1.000 22 43933198 intron variant C/A;T snv 0.18 0.700 1.000 1 2019 2019