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: rs796053356
rs796053356
STXBP1
4 0.882 0.160 9 127663344 missense variant G/A snv 0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs797046134
rs797046134
ALDH1A3 ; LOC101927751
1 1.000 0.040 15 100914748 missense variant T/C snv 0.700 0
dbSNP: rs797046135
rs797046135
FOXN1
1 1.000 0.040 17 28524525 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs81002885
rs81002885
BRCA2
6 0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 0.700 0
dbSNP: rs876660634
rs876660634
PTEN
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2002 2002
dbSNP: rs6314
rs6314
HTR2A
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2002 2002
dbSNP: rs1064794245
rs1064794245
ADSL
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs768913131
rs768913131
NRXN1
3 0.925 0.040 2 50552821 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs374903967
rs374903967
MBD1
1 1.000 0.040 18 50275233 missense variant G/A snv 6.4E-05 6.3E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2005 2005
dbSNP: rs780285243
rs780285243
MBD1
1 1.000 0.040 18 50275432 missense variant G/A snv 1.8E-05 7.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2005 2005
dbSNP: rs11179000
rs11179000
TPH2
2 0.925 0.040 12 71944848 intron variant A/T snv 0.31 0.010 < 0.001 1 2006 2006
dbSNP: rs16859788
rs16859788
GABRA4
1 1.000 0.040 4 46969992 intron variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs17599165
rs17599165
GABRA4
1 1.000 0.040 4 46938198 intron variant T/A snv 0.12 0.010 1.000 1 2006 2006
dbSNP: rs17599416
rs17599416
GABRA4
1 1.000 0.040 4 46971421 intron variant A/G snv 0.13 0.010 1.000 1 2006 2006
dbSNP: rs1912960
rs1912960
GABRA4
2 0.925 0.040 4 46951864 intron variant G/C snv 0.28 0.010 1.000 1 2006 2006
dbSNP: rs2280073
rs2280073
GABRA4
1 1.000 0.040 4 46965556 intron variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs2351299
rs2351299
GABRB1
2 1.000 0.040 4 47141348 intron variant G/T snv 0.19 0.010 < 0.001 1 2006 2006
dbSNP: rs3832300
rs3832300
GABRB1
2 1.000 0.040 4 47426318 3 prime UTR variant -/T delins 5.1E-02 0.010 < 0.001 1 2006 2006
dbSNP: rs4341581
rs4341581
TPH2
1 1.000 0.040 12 71941293 intron variant G/T snv 0.97 0.010 < 0.001 1 2006 2006