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: rs4846914
rs4846914
GALNT2
6 0.925 0.080 1 230159944 intron variant G/A snv 0.45 0.800 1.000 9 2008 2019
dbSNP: rs2144300
rs2144300
GALNT2
7 0.882 0.040 1 230159169 intron variant C/T snv 0.44 0.800 1.000 5 2008 2018
dbSNP: rs4660293
rs4660293
PABPC4
5 1 39562508 non coding transcript exon variant A/C;G snv 0.800 1.000 5 2010 2018
dbSNP: rs12748152
rs12748152 		8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.800 1.000 4 2013 2018
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.800 1.000 4 2012 2019
dbSNP: rs2642438
rs2642438
MTARC1
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 3 2018 2019
dbSNP: rs4650994
rs4650994
TEX35 ; C1orf220
2 1 178546177 intron variant G/A snv 0.40 0.800 1.000 3 2013 2018
dbSNP: rs599839
rs599839
PSRC1
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.800 1.000 3 2012 2018
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.800 1.000 3 2012 2018
dbSNP: rs7528419
rs7528419
CELSR2
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.800 1.000 3 2012 2019
dbSNP: rs12145743
rs12145743
RRNAD1
4 1 156730859 intron variant T/G snv 0.24 0.800 1.000 2 2013 2017
dbSNP: rs12740374
rs12740374
CELSR2
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.800 1.000 2 2012 2018
dbSNP: rs12753251
rs12753251
LOC105371632
2 1 178560763 upstream gene variant G/A snv 0.42 0.700 1.000 2 2018 2019
dbSNP: rs1689800
rs1689800
LINC01344
2 1 182199750 intron variant A/G snv 0.34 0.800 1.000 2 2010 2013
dbSNP: rs4846918
rs4846918
GALNT2
3 1 230164840 intron variant C/G;T snv 0.700 1.000 2 2012 2012
dbSNP: rs4846923
rs4846923
GALNT2
2 1 230171476 intron variant T/G snv 0.72 0.700 1.000 2 2015 2018
dbSNP: rs6657811
rs6657811
CELSR2
4 1 109264661 intron variant A/C;T snv 4.0E-06; 0.10 0.700 1.000 2 2015 2018
dbSNP: rs72634501
rs72634501
MACF1
1 1 39085816 intron variant T/C snv 0.18 0.700 1.000 2 2015 2018
dbSNP: rs79598313
rs79598313
KDF1
5 1 26958422 intron variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
4 1 172377408 intron variant G/A snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs10127775
rs10127775
GALNT2
4 1 230160042 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10305650
rs10305650
ARNT
2 1 150876501 intron variant G/A;C snv 1.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs10305685
rs10305685
ARNT
2 1 150838529 intron variant T/C snv 5.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs10489615
rs10489615
GALNT2
3 1 230169242 intron variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs10494363
rs10494363
MTMR11 ; OTUD7B
1 1 149937602 upstream gene variant G/A snv 4.7E-02 0.700 1.000 1 2018 2018