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: rs10032549
rs10032549
SHROOM3
1 4 76476862 intron variant A/G snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.800 1.000 1 2013 2013
dbSNP: rs17536527
rs17536527 		1 15 45426989 upstream gene variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs4859682
rs4859682
SHROOM3
2 4 76489165 intron variant C/A snv 0.33 0.800 1.000 1 2013 2013
dbSNP: rs6066043
rs6066043
SLC13A3
3 1.000 0.080 20 46659814 intron variant G/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs10008637
rs10008637
SHROOM3
2 4 76492991 intron variant T/A;C snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs10066990
rs10066990 		1 5 34509720 regulatory region variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs10084572
rs10084572
LOC105372829
3 1.000 0.040 21 43992991 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10086569
rs10086569
SLC7A13
1 8 86234980 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs10096421
rs10096421
XKR6
1 8 10974358 intron variant T/G snv 0.60 0.700 1.000 1 2019 2019
dbSNP: rs10098664
rs10098664
BLK
1 8 11559984 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10102889
rs10102889
NRG1
1 8 32578102 intron variant C/G snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
4 1 172377408 intron variant G/A snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs10120859
rs10120859
TMEM252 ; TMEM252-DT
1 9 68541379 intron variant T/C snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs10122824
rs10122824
QSOX2
1 9 136218015 intron variant T/C;G snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs10127790
rs10127790
SORT1
2 1 109348511 intron variant C/T snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs10142839
rs10142839
DIO2-AS1
1 14 80411775 intron variant G/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs10158537
rs10158537
SDCCAG8
1 1 243324884 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10159261
rs10159261
DNAJC16 ; AGMAT
1 1 15586492 non coding transcript exon variant G/T snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs10179584
rs10179584
LOC105373454
1 2 18497405 intron variant T/C snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs10181201
rs10181201
SPTBN1
1 2 54572037 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10186482
rs10186482
NEB
1 2 151625463 intron variant A/G snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs10189682
rs10189682
LOC101928278
1 2 216781832 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10197255
rs10197255
LOC105374786
1 2 67647421 intron variant T/A;C snv 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