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: rs1060499603
rs1060499603
EYA1
3 0.882 0.040 8 71211239 stop gained C/A snv 0.700 0
dbSNP: rs397517920
rs397517920
EYA1 ; LOC105375894
3 0.882 0.040 8 71199371 missense variant A/G snv 0.700 0
dbSNP: rs869025180
rs869025180
EYA1
1 1.000 8 71299637 splice donor variant C/T snv 0.700 0
dbSNP: rs1076562
rs1076562
DRD2
2 0.925 0.120 11 113425286 intron variant A/G snv 0.65 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2010 2010
dbSNP: rs2124459
rs2124459
CBS
5 0.827 0.200 21 43055604 3 prime UTR variant T/C snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs234705
rs234705
CBS
2 0.925 0.120 21 43063662 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs234709
rs234709
CBS
7 0.827 0.200 21 43066854 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs4938016
rs4938016
ANKK1
2 0.925 0.120 11 113399293 missense variant G/A;C;T snv 1.7E-04; 0.64; 2.0E-03 0.010 1.000 1 2011 2011