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: rs145882986
rs145882986
WNT3A
1 1.000 0.080 1 228050906 synonymous variant C/T snv 6.7E-04 5.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs192966556
rs192966556
WNT3A
1 1.000 0.080 1 228022684 missense variant C/T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs200894751
rs200894751
ECE1
1 1.000 0.080 1 21225411 missense variant G/A snv 2.5E-04 1.7E-04 0.700 0
dbSNP: rs765763704
rs765763704
ECE1
1 1.000 0.080 1 21247317 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs10206961
rs10206961
VAMP5
2 0.925 0.080 2 85587861 intron variant C/T snv 0.53 0.020 1.000 2 2016 2018
dbSNP: rs1254900
rs1254900
VAMP5
4 0.851 0.120 2 85589211 intron variant A/G snv 0.81 0.020 1.000 2 2016 2018
dbSNP: rs13017697
rs13017697
ZEB2
1 1.000 0.080 2 144399748 missense variant G/A;T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1421589
rs1421589
NRXN1
1 1.000 0.080 2 50063015 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs14242
rs14242
VAMP5 ; RNF181
1 1.000 0.080 2 85593289 3 prime UTR variant C/T snv 8.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2304678
rs2304678
PREB ; ABHD1
1 1.000 0.080 2 27130639 stop gained G/A;C snv 4.0E-06; 0.17 0.700 1.000 1 2009 2009
dbSNP: rs34961586
rs34961586
ZEB2
1 1.000 0.080 2 144403925 synonymous variant C/G;T snv 5.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs4672229
rs4672229
VRK2 ; LOC107984043
2 0.925 0.080 2 58049145 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs144018404
rs144018404
PROKR1 ; APLF
1 1.000 0.080 2 68655413 missense variant T/A snv 5.6E-04 6.2E-04 0.700 0
dbSNP: rs2191026
rs2191026
SLC6A20
1 1.000 0.080 3 45767003 intron variant C/A;T snv 0.55 0.010 1.000 1 2019 2019
dbSNP: rs6770261
rs6770261
SLC6A20
1 1.000 0.080 3 45763242 intron variant C/T snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs7640009
rs7640009
SLC6A20
1 1.000 0.080 3 45776980 intron variant A/G snv 3.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs146535482
rs146535482
HHIP ; HHIP-AS1
2 1.000 0.080 4 144658851 missense variant G/C snv 1.1E-03 3.9E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs200798148
rs200798148
HHIP ; HHIP-AS1
2 1.000 0.080 4 144659723 missense variant C/T snv 8.5E-05 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs28647582
rs28647582
PHOX2B ; PHOX2B-AS1
3 0.882 0.200 4 41747248 intron variant T/C snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs61730970
rs61730970
HHIP ; HHIP-AS1
2 1.000 0.080 4 144659714 missense variant G/A snv 5.4E-03 2.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs1560465785
rs1560465785
PHOX2B ; PHOX2B-AS1
1 1.000 0.080 4 41746307 missense variant G/C snv 0.700 0
dbSNP: rs11241200
rs11241200
MCC
1 1.000 0.080 5 113339402 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs36119840
rs36119840
GDNF ; GDNF-AS1
6 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997
dbSNP: rs369759015
rs369759015
PCDHA9 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1 1.000 0.080 5 140849775 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2018 2018