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: rs3850625
rs3850625
CACNA1S
3 1 201047168 missense variant G/A snv 0.12 8.9E-02 0.700 1.000 5 2016 2019
dbSNP: rs267738
rs267738
CERS2
4 1.000 0.040 1 150968149 missense variant T/A;G snv 4.0E-06; 0.15 0.700 1.000 4 2017 2019
dbSNP: rs12722725
rs12722725
PPM1J ; LOC105378910
1 1 112716059 non coding transcript exon variant T/C snv 8.9E-02 0.700 1.000 3 2019 2019
dbSNP: rs11166440
rs11166440 		1 1 100342807 upstream gene variant A/G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs2802729
rs2802729
SDCCAG8
2 1 243338461 intron variant C/A;G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs34720381
rs34720381
PRRC2C
4 1 171486183 intron variant C/T snv 7.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs3795503
rs3795503
KIAA1614 ; LOC107985231
3 1 180936558 synonymous variant C/T snv 0.31 0.27 0.700 1.000 2 2019 2019
dbSNP: rs4525087
rs4525087
ZNF436
1 1 23365736 intron variant A/C snv 0.58 0.700 1.000 2 2018 2019
dbSNP: rs6664388
rs6664388
DNAJC16 ; AGMAT
1 1 15581747 intron variant C/T snv 0.30 0.700 1.000 2 2019 2019
dbSNP: rs7535253
rs7535253 		1 1 214571550 regulatory region variant T/C snv 0.81 0.700 1.000 2 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: rs10127790
rs10127790
SORT1
2 1 109348511 intron variant C/T snv 0.63 0.700 1.000 1 2017 2017
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: rs10753629
rs10753629 		1 1 163769110 downstream gene variant T/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10857788
rs10857788
SYPL2
1 1 109469667 intron variant G/A snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs10874312
rs10874312 		3 1 82478888 intron variant G/A snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs1119066
rs1119066 		1 1 186689080 regulatory region variant C/A snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs11211257
rs11211257
PIK3R3 ; P3R3URF-PIK3R3
1 1 46116261 intron variant A/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs11260709
rs11260709
CPLANE2
1 1 16231196 non coding transcript exon variant T/C snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs11261022
rs11261022
KLHDC7A
1 1 18481459 missense variant C/A snv 0.34 0.33 0.700 1.000 1 2019 2019
dbSNP: rs115276619
rs115276619
NIBAN1
1 1 184895998 intron variant T/A snv 1.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs12024377
rs12024377
MFSD4A ; MFSD4A-AS1
1 1 205568730 upstream gene variant G/A snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs12061708
rs12061708
KLHDC7A
1 1 18483422 3 prime UTR variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs12124078
rs12124078
DNAJC16
3 1 15543404 intron variant A/G snv 0.32 0.700 1.000 1 2016 2016