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: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.800 1.000 2 2011 2019
dbSNP: rs12067906
rs12067906 		1 1 192462868 intron variant T/C snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs1223397
rs1223397
TBC1D7 ; PHACTR1 ; TBC1D7-LOC100130357
2 6 13270713 intron variant G/A;C snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs17031508
rs17031508
BANK1
1 4 101639133 intron variant A/C snv 8.6E-02 0.800 1.000 1 2012 2012
dbSNP: rs6749447
rs6749447
STK39
2 2 168184876 intron variant T/G snv 0.37 0.800 1.000 1 2009 2009
dbSNP: rs7984522
rs7984522
MYO16
1 13 108695311 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs11191548
rs11191548
CNNM2
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.700 1.000 3 2011 2011
dbSNP: rs17249754
rs17249754
ATP2B1
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.700 1.000 3 2011 2013
dbSNP: rs11191593
rs11191593
NT5C2
4 10 103179458 intron variant T/C snv 9.0E-02 0.700 1.000 2 2011 2013
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.700 1.000 2 2011 2011
dbSNP: rs1421811
rs1421811
NPR3
2 5 32714164 intron variant C/G;T snv 0.700 1.000 2 2011 2014
dbSNP: rs1530440
rs1530440
CABCOCO1
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 2 2011 2011
dbSNP: rs16948048
rs16948048
ZNF652 ; LOC102724596
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 2 2011 2011
dbSNP: rs16998073
rs16998073 		10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.700 1.000 2 2011 2011
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 2 2011 2011
dbSNP: rs2681472
rs2681472
ATP2B1
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 2 2011 2011
dbSNP: rs2681492
rs2681492
ATP2B1
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs3824755
rs3824755
CYP17A1
5 0.925 0.120 10 102836092 intron variant G/A;C;T snv 0.700 1.000 2 2011 2013
dbSNP: rs653178
rs653178
ATXN2
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 2 2011 2011
dbSNP: rs1004467
rs1004467
CYP17A1 ; CYP17A1-AS1
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.700 1.000 1 2011 2011
dbSNP: rs10143078
rs10143078
COX16 ; SYNJ2BP ; SYNJ2BP-COX16
2 14 70414772 intron variant A/C snv 6.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs10197121
rs10197121
RRM2
1 2 10153562 intron variant C/T snv 0.64 0.700 1.000 1 2011 2011
dbSNP: rs10444602
rs10444602 		1 12 131708291 upstream gene variant T/G snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs10555137
rs10555137
CASC8
1 8 127457345 intron variant C/T snv 6.6E-02 0.700 1.000 1 2011 2011