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: rs880315
rs880315
CASZ1
9 0.925 0.120 1 10736809 intron variant T/C snv 0.32 0.700 1.000 3 2016 2018
dbSNP: rs17367504
rs17367504
MTHFR
9 1.000 0.040 1 11802721 intron variant A/G snv 0.14 0.700 1.000 2 2011 2016
dbSNP: rs3790604
rs3790604
WNT2B
5 1 112504257 intron variant C/A snv 7.8E-02 0.700 1.000 2 2018 2018
dbSNP: rs10776752
rs10776752
WNT2B
4 1 112501706 intron variant G/T snv 8.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs12118370
rs12118370
ST7L
3 1 112605645 intron variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs12129649
rs12129649
MOV10
4 1 112688881 5 prime UTR variant G/T snv 6.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs1330225
rs1330225 		3 1 106293321 intergenic variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs149764880
rs149764880
CLCN6
3 1 11820674 non coding transcript exon variant G/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs16849553
rs16849553
LINC02815 ; LINC02814
2 1 229201099 intron variant T/C snv 3.7E-02 0.700 1.000 1 2013 2013
dbSNP: rs17030613
rs17030613
CAPZA1
7 1 112648185 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17035646
rs17035646
CASZ1
6 1 10736490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17037452
rs17037452
CLCN6
3 1 11835618 intron variant A/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs17669622
rs17669622
ESRRG
2 1 216583479 intron variant G/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs2076460
rs2076460 		2 1 27645547 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2990220
rs2990220
GBAP1
3 1 155220463 intron variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2999159
rs2999159
MOV10
4 1 112688136 intron variant A/G snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs34071855
rs34071855
CASZ1
4 1 10738432 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35479618
rs35479618
NPR1 ; MIR8083
3 1 153689947 missense variant G/A snv 9.5E-03 1.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs3753584
rs3753584
CLCN6 ; MTHFR
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs3924703
rs3924703
ADGRL2
1 1 81478514 intron variant A/G snv 3.7E-02 0.700 1.000 1 2012 2012
dbSNP: rs4660293
rs4660293
PABPC4
5 1 39562508 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6658555
rs6658555
ST7L
2 1 112555912 missense variant C/T snv 0.19 0.20 0.700 1.000 1 2016 2016
dbSNP: rs6676300
rs6676300 		2 1 11865243 regulatory region variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.700 1.000 1 2016 2016
dbSNP: rs71647013
rs71647013
RNU5E-1
2 1 11908142 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2018 2018