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: rs17381664
rs17381664
ZZZ3
3 1.000 0.080 1 77582646 intron variant T/C snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs2179129
rs2179129
ZNRF3
2 22 29054935 3 prime UTR variant A/G snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs2294239
rs2294239
ZNRF3
4 22 29053489 intron variant A/G snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs4823006
rs4823006
ZNRF3
5 22 29055683 3 prime UTR variant A/G snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs7874161
rs7874161
ZNF462
1 9 106876781 intron variant C/T snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs780159
rs780159
ZMIZ1
2 10 79147390 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10408163
rs10408163
ZC3H4
6 19 47093845 non coding transcript exon variant T/C snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs2303108
rs2303108
ZC3H4
3 19 47086638 intron variant T/C snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs3810291
rs3810291
ZC3H4
9 19 47065746 3 prime UTR variant G/A snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs1344672
rs1344672
ZBTB38
1 3 141406863 intron variant C/G snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs2871960
rs2871960
ZBTB38
3 3 141402972 5 prime UTR variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs7632381
rs7632381
ZBTB38
2 3 141387221 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs3790606
rs3790606
WNT2B
1 1 112509564 intron variant G/C snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs17023223
rs17023223
WARS2
1 1 119088551 intron variant T/C snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs2645294
rs2645294
WARS2
4 1 119031964 3 prime UTR variant C/T snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs741677
rs741677
VPS53
1 17 560603 intron variant A/G snv 0.46 0.52 0.700 1.000 1 2017 2017
dbSNP: rs1406948
rs1406948
UQCC1
3 20 35317816 intron variant G/A snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs4911180
rs4911180
UQCC1
1 20 35385145 intron variant G/A snv 0.54 0.700 1.000 1 2017 2017
dbSNP: rs4911492
rs4911492
UQCC1
1 20 35363996 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2395607
rs2395607
UHRF1BP1
2 6 34805950 intron variant C/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs9469913
rs9469913
UHRF1BP1
2 6 34859308 missense variant A/G;T snv 4.0E-06; 0.16 0.700 1.000 1 2017 2017
dbSNP: rs1046934
rs1046934
TSEN15
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs2274432
rs2274432
TSEN15
5 1 184051811 missense variant G/A snv 0.33 0.28 0.700 1.000 1 2017 2017
dbSNP: rs2894254
rs2894254
TSBP1-AS1
2 1.000 0.120 6 32377912 intron variant T/G snv 6.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs3130320
rs3130320
TSBP1-AS1
5 0.851 0.160 6 32255481 intron variant T/C snv 0.68 0.700 1.000 1 2017 2017