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: rs10003632
rs10003632
IQCM
1 4 149563756 missense variant G/T snv 4.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs1005902
rs1005902
HECTD4
1 12 112229871 missense variant T/C;G snv 4.1E-06; 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10191770
rs10191770 		1 2 114179758 intergenic variant T/C snv 8.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs10204405
rs10204405 		1 2 164191236 intron variant G/A snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs1020992
rs1020992 		1 5 114804484 intergenic variant T/A snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs10485552
rs10485552
KIF16B
1 20 16451011 intron variant T/C snv 4.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs1060407
rs1060407
MAP4
1 3 47916547 missense variant G/A;T snv 4.0E-06; 0.29 0.700 1.000 1 2016 2016
dbSNP: rs11037965
rs11037965 		1 11 44356606 intergenic variant C/T snv 9.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs11044991
rs11044991
LINC02398
1 12 20021430 intron variant G/A snv 6.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs12148488
rs12148488
PPCDC
1 15 75090201 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12421941
rs12421941
TLCD5
1 11 120323648 upstream gene variant A/G snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs1275978
rs1275978
KCNK3
1 2 26700227 intron variant C/T snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs1290786
rs1290786
MECOM
1 3 169379593 intron variant C/T snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs1379281
rs1379281
MYO9B
1 19 17078976 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs16895119
rs16895119
QKI
1 6 163576234 3 prime UTR variant C/T snv 4.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs17065527
rs17065527
PTPRG
1 3 61864416 intron variant G/A snv 2.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs17116149
rs17116149 		1 10 103928292 intergenic variant G/A snv 2.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs17554326
rs17554326
WARS1 ; WDR25
1 14 100376040 5 prime UTR variant A/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs17693945
rs17693945
MSRA
1 8 10248500 intron variant C/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs17807624
rs17807624 		1 8 11605506 intergenic variant C/T snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs2015232
rs2015232 		1 11 123876886 intergenic variant G/A snv 4.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs2465625
rs2465625 		1 12 46956964 regulatory region variant G/T snv 0.98 0.700 1.000 1 2012 2012
dbSNP: rs3025380
rs3025380
DBH
1 9 133636634 missense variant G/C snv 3.4E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs34269292
rs34269292
USP8
1 15 50453226 intron variant A/G snv 2.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs3755652
rs3755652
SLC4A7
1 3 27431445 missense variant C/T snv 0.20 0.18 0.700 1.000 1 2016 2016