Source: CURATED ×
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: rs10030601
rs10030601
IQCM
1 1.000 0.040 4 149804060 intron variant T/C snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs10496964
rs10496964 		1 0.925 0.040 2 144602342 intergenic variant C/T snv 0.12 0.800 1.000 1 2012 2012
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
3 0.925 0.120 MT 9237 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518988
rs1057518988
GRIN2B
3 0.925 0.040 12 13571859 missense variant T/C snv 0.700 0
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs111577701
rs111577701 		1 1.000 0.040 3 168143620 intergenic variant C/T snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs111908689
rs111908689 		1 1.000 0.040 11 85938055 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11214136
rs11214136
BCO2
1 1.000 0.040 11 112211286 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs11663316
rs11663316 		2 1.000 0.040 18 9027916 intergenic variant T/A snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs1178326
rs1178326
HDAC9
2 1.000 0.040 7 18195234 intron variant T/C snv 3.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs118166657
rs118166657 		2 1.000 0.040 14 63580544 intergenic variant C/G snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs12059546
rs12059546
CHRM3
1 0.925 0.040 1 239806797 intron variant A/G snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs121908869
rs121908869
TSHR ; CEP128
4 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs121913578
rs121913578
MTR
5 0.851 0.280 1 236895470 missense variant C/T snv 6.4E-05 8.4E-05 0.700 0
dbSNP: rs12204701
rs12204701 		1 1.000 0.040 6 4644367 regulatory region variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs12668095
rs12668095
LOC105375268
2 1.000 0.040 7 47036178 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs13026414
rs13026414
LOC101927235 ; LOC105377632
1 1.000 0.040 2 57706920 intergenic variant C/T snv 0.29 0.800 1.000 1 2012 2012
dbSNP: rs13287547
rs13287547
C9orf92
2 1.000 0.040 9 16286892 intron variant A/G snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs139145929
rs139145929
CPA6 ; LOC102724708
1 1.000 0.040 8 67434148 stop gained G/A snv 3.2E-05 2.2E-04 0.700 0
dbSNP: rs1394074
rs1394074
OLFML3
1 1.000 0.040 1 114005041 intron variant C/G snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs139427007
rs139427007
LOC105369927 ; LOC105369928
2 1.000 0.040 12 97202325 intergenic variant A/T snv 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs141860749
rs141860749
SYT2
2 1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04 0.700 1.000 1 2015 2015
dbSNP: rs1429264
rs1429264
COTL1
2 1.000 0.040 16 84589878 intron variant T/C snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs143543475
rs143543475 		2 1.000 0.040 10 27419100 upstream gene variant G/C snv 8.0E-02 0.700 1.000 1 2015 2015