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: rs2236405
rs2236405
PTCH1
1 1.000 0.080 9 95449290 missense variant T/A snv 3.4E-02 4.7E-02 0.010 1.000 1 2013 2013
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: rs2435342
rs2435342
RET
1 1.000 0.080 10 43088808 intron variant T/C snv 0.43 0.700 1.000 1 2009 2009
dbSNP: rs2435356
rs2435356
RET
1 1.000 0.080 10 43087702 intron variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs2435377
rs2435377 		1 1.000 0.080 10 43188152 downstream gene variant C/T snv 0.84 0.700 1.000 1 2009 2009
dbSNP: rs2439305
rs2439305
NRG1
1 1.000 0.080 8 32571946 intron variant G/A snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs2505506
rs2505506
CSGALNACT2
1 1.000 0.080 10 43150406 intron variant C/G;T snv 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: rs2505533
rs2505533
RET
1 1.000 0.080 10 43099005 intron variant T/A;C snv 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: rs2506011
rs2506011
RET
1 1.000 0.080 10 43079488 intron variant T/C snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs2506021
rs2506021
RET
1 1.000 0.080 10 43088700 intron variant C/T snv 0.40 0.700 1.000 1 2009 2009
dbSNP: rs2742236
rs2742236
RET
1 1.000 0.080 10 43125103 intron variant G/A snv 0.57 0.700 1.000 1 2009 2009
dbSNP: rs2837770
rs2837770
DSCAM
1 1.000 0.080 21 40662426 intron variant G/A snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs3004214
rs3004214 		1 1.000 0.080 10 43136250 upstream gene variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs311905
rs311905
NOX5
1 1.000 0.080 15 69055253 intron variant G/A snv 0.86 0.010 1.000 1 2019 2019
dbSNP: rs3123655
rs3123655
RET
1 1.000 0.080 10 43099746 intron variant C/G snv 0.33 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: rs357565
rs357565
PTCH1
1 1.000 0.080 9 95443161 3 prime UTR variant C/A snv 0.24 0.010 1.000 1 2013 2013
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
dbSNP: rs372958987
rs372958987
EDN3
1 1.000 0.080 20 59324430 missense variant C/A;G;T snv 2.0E-05; 3.6E-05 0.010 1.000 1 1998 1998
dbSNP: rs3764070
rs3764070
LINC00327
1 1.000 0.080 13 23468930 intron variant G/A snv 0.19 0.700 1.000 1 2009 2009
dbSNP: rs41292293
rs41292293
SLC9A3R2
1 1.000 0.080 16 2036965 synonymous variant G/A snv 8.1E-03 9.5E-03 0.010 1.000 1 2014 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