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: rs141893504
rs141893504
SEMA3D
1 1.000 0.080 7 85022533 missense variant G/T snv 4.0E-03 4.2E-03 0.700 0
dbSNP: rs1419539530
rs1419539530
DSCAM
1 1.000 0.080 21 40189232 missense variant G/A snv 9.5E-06 7.0E-06 0.700 0
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: rs1560465785
rs1560465785
PHOX2B ; PHOX2B-AS1
1 1.000 0.080 4 41746307 missense variant G/C snv 0.700 0
dbSNP: rs1564489315
rs1564489315
RET
1 1.000 0.080 10 43100496 stop gained G/A snv 0.700 0
dbSNP: rs1564490097
rs1564490097
RET
1 1.000 0.080 10 43102444 missense variant T/C snv 0.700 0
dbSNP: rs1564491460
rs1564491460
RET
1 1.000 0.080 10 43105186 missense variant G/A snv 0.700 0
dbSNP: rs1564500612
rs1564500612
RET
1 1.000 0.080 10 43123732 frameshift variant -/T delins 0.700 0
dbSNP: rs1564501934
rs1564501934
RET
1 1.000 0.080 10 43126678 frameshift variant T/- del 0.700 0
dbSNP: rs193922699
rs193922699
RET
1 1.000 0.080 10 43114478 splice acceptor variant A/G snv 0.700 0
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: rs751572082
rs751572082
RET
1 1.000 0.080 10 43102608 missense variant G/A;C snv 4.8E-05 6.3E-05 0.700 0
dbSNP: rs760539449
rs760539449
POLR2F ; SOX10
1 1.000 0.080 22 37974064 missense variant T/C snv 8.4E-05 5.6E-05 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: rs76764689
rs76764689
RET
2 0.925 0.080 10 43100480 missense variant C/T snv 0.700 0
dbSNP: rs779996040
rs779996040
RET
1 1.000 0.080 10 43119575 missense variant C/T snv 8.3E-06 0.700 0
dbSNP: rs144432435
rs144432435 		2 0.925 0.080 10 43063942 intergenic variant C/T snv 1.2E-02 0.710 < 0.001 1 2018 2018
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: rs377767396
rs377767396
RET
2 0.925 0.080 10 43113623 missense variant C/G;T snv 0.020 0.500 2 1994 1998
dbSNP: rs7835688
rs7835688
NRG1
2 0.925 0.080 8 32553981 intron variant G/A;C;T snv 0.050 0.800 5 2014 2019
dbSNP: rs16879552
rs16879552
NRG1
3 0.882 0.080 8 32553698 intron variant C/T snv 0.10 0.850 0.833 6 2009 2019
dbSNP: rs2435357
rs2435357
RET
8 0.790 0.240 10 43086608 intron variant T/C snv 0.79 0.900 0.923 13 2011 2019
dbSNP: rs77316810
rs77316810
RET
10 0.776 0.200 10 43113654 missense variant T/A;C;G snv 0.760 1.000 33 1994 2017
dbSNP: rs2506004
rs2506004
RET
3 0.882 0.160 10 43086825 intron variant A/C;T snv 0.050 1.000 5 2011 2015
dbSNP: rs1800858
rs1800858
RET
4 0.851 0.160 10 43100520 synonymous variant A/C;G snv 0.73 0.040 1.000 4 1999 2014