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: rs1564500612
rs1564500612
RET
1 1.000 0.080 10 43123732 frameshift variant -/T delins 0.700 0
dbSNP: rs781987951
rs781987951
PCDHA9 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1 1.000 0.080 5 140849774 frameshift variant -/TA ins 4.0E-06; 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs11766001
rs11766001
SEMA3A
1 1.000 0.080 7 84515886 intergenic variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs13223150
rs13223150
TSGA13
2 0.925 0.080 7 130684771 intron variant A/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs77743549
rs77743549
INMT ; INMT-MINDY4
1 1.000 0.080 7 30752287 missense variant A/C snv 7.6E-03 6.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs765763704
rs765763704
ECE1
1 1.000 0.080 1 21247317 missense variant A/C snv 4.0E-06 0.700 0
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
dbSNP: rs4759753
rs4759753
RIMBP2
1 1.000 0.080 12 130680088 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
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: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2506030
rs2506030 		1 1.000 0.080 10 42952399 intergenic variant A/G snv 0.35 0.030 1.000 3 2015 2019
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: rs11197571
rs11197571
GFRA1
1 1.000 0.080 10 116183122 intron variant A/G snv 0.13 0.700 1.000 1 2009 2009
dbSNP: rs11795613
rs11795613
NLGN3
2 0.925 0.120 X 71147478 intron variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs17653445
rs17653445 		2 0.925 0.080 10 37546726 downstream gene variant A/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs1800860
rs1800860
RET
3 0.882 0.080 10 43111239 missense variant A/G snv 0.70 0.74 0.010 1.000 1 2010 2010
dbSNP: rs1864403
rs1864403
RET
1 1.000 0.080 10 43109502 intron variant A/G snv 0.79 0.700 1.000 1 2009 2009
dbSNP: rs2505526
rs2505526 		1 1.000 0.080 10 43274443 intergenic variant A/G snv 0.12 0.700 1.000 1 2009 2009
dbSNP: rs2505538
rs2505538
RET
1 1.000 0.080 10 43095955 intron variant A/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs2505995
rs2505995 		1 1.000 0.080 10 43074205 upstream gene variant A/G snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs5961397
rs5961397
NLGN4X
1 1.000 0.080 X 6004425 intron variant A/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs7093409
rs7093409
RASGEF1A
1 1.000 0.080 10 43244619 intron variant A/G snv 0.18 0.700 1.000 1 2009 2009
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: rs7804122
rs7804122
SEMA3A
2 0.925 0.120 7 84005397 synonymous variant A/G snv 0.24 0.24 0.010 1.000 1 2012 2012
dbSNP: rs193922699
rs193922699
RET
1 1.000 0.080 10 43114478 splice acceptor variant A/G snv 0.700 0