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: rs1011121
rs1011121
LOC105371345
1 16 75292035 downstream gene variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1050316
rs1050316
MEF2D
3 1 156464911 3 prime UTR variant G/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs10774231
rs10774231 		1 12 4406208 downstream gene variant T/C snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs11172113
rs11172113
LRP1
10 0.882 0.080 12 57133500 intron variant T/C snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs12134493
rs12134493 		4 0.925 0.040 1 115135325 TF binding site variant C/A snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12740679
rs12740679 		1 1 150289855 upstream gene variant C/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs1555132
rs1555132
NOL4L
1 20 32458764 intron variant C/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs17220352
rs17220352
ASTN2
1 9 116485780 intron variant A/G snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs2036465
rs2036465
MACF1
1 1 39110310 intron variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2072806
rs2072806
BTN2A2
2 1.000 0.040 6 26384865 intron variant C/G snv 7.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs2362290
rs2362290
TRPM8
1 2 233916724 upstream gene variant G/A snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs2895526
rs2895526
CAMK1D
1 10 12684062 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs34097149
rs34097149 		1 3 154545386 intergenic variant T/C snv 2.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs3748784
rs3748784
PTBP2
1 1 96721618 upstream gene variant A/C;G snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs4596713
rs4596713
FXN
1 9 69084300 intron variant C/T snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs4909945
rs4909945
MRVI1
2 11 10652192 missense variant T/A;C snv 0.76 0.700 1.000 1 2018 2018
dbSNP: rs4941139
rs4941139 		1 18 62495558 intergenic variant T/C snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs56304645
rs56304645
PRDM16 ; LOC105378606
1 1 3168622 intron variant C/T snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs56349329
rs56349329
ATG13
1 11 46673933 3 prime UTR variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs6606710
rs6606710
MYO1H
1 12 109411098 intron variant T/C snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs7300001
rs7300001
IFT81
1 12 110143926 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7555006
rs7555006 		1 1 51014586 intergenic variant A/G snv 0.48 0.700 1.000 1 2018 2018
dbSNP: rs77804065
rs77804065
LINC02210-CRHR1 ; LOC107985028
1 17 45733530 splice region variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs78438709
rs78438709
PLEKHA1
1 10 122441555 3 prime UTR variant A/G snv 5.2E-02 0.700 1.000 1 2018 2018