Source: CURATED ×
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: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs201435717
rs201435717
PKIB ; SERINC1
1 1.000 0.040 6 122472555 intron variant -/T delins 9.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs200956582
rs200956582
TRIM34 ; TRIM5 ; TRIM6-TRIM34
1 1.000 0.040 11 5637380 intron variant A/- del 7.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs7840202
rs7840202
UBR5
1 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs876660634
rs876660634
PTEN
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
dbSNP: rs184904296
rs184904296
LOC112268446
1 1.000 0.040 3 112431166 intergenic variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs116065238
rs116065238 		1 1.000 0.040 1 171482283 upstream gene variant A/G snv 4.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs12435940
rs12435940 		1 1.000 0.040 14 25552779 intergenic variant A/G snv 0.97 0.700 1.000 1 2015 2015
dbSNP: rs138901640
rs138901640 		1 1.000 0.040 9 118031487 intron variant A/G snv 5.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs140564516
rs140564516
LASP1
1 1.000 0.040 17 38873719 intron variant A/G snv 8.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs141990949
rs141990949
CFAP299
1 1.000 0.040 4 80443266 intron variant A/G snv 1.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs142609537
rs142609537 		1 1.000 0.040 15 95675665 intron variant A/G snv 1.8E-02 0.700 1.000 1 2015 2015
dbSNP: rs147368169
rs147368169
TSNARE1
1 1.000 0.040 8 142389482 intron variant A/G snv 1.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs1955873
rs1955873 		1 1.000 0.040 14 25573788 intergenic variant A/G snv 0.97 0.700 1.000 1 2015 2015
dbSNP: rs73989024
rs73989024 		1 1.000 0.040 17 49932105 intron variant A/G snv 5.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs75316710
rs75316710
ATP2B2
1 1.000 0.040 3 10508052 intron variant A/G snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs78277363
rs78277363
ADCY2
1 1.000 0.040 5 7627129 intron variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs799979
rs799979
CD36
1 1.000 0.040 7 80415882 intron variant A/G snv 2.7E-02 0.700 1.000 1 2015 2015
dbSNP: rs184148048
rs184148048 		1 1.000 0.040 2 66212157 intergenic variant A/T snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs41359445
rs41359445
PPARGC1A
1 1.000 0.040 4 23792721 3 prime UTR variant A/T snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs201226244
rs201226244
LOC105372859
1 1.000 0.040 22 19299874 intron variant AA/-;AAA delins 0.700 1.000 1 2015 2015
dbSNP: rs201958930
rs201958930 		1 1.000 0.040 4 58871307 intron variant AAA/-;AA;AAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
dbSNP: rs117070989
rs117070989 		1 1.000 0.040 6 137490510 downstream gene variant C/A snv 8.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs117605016
rs117605016
TMEM132D
1 1.000 0.040 12 129129840 intron variant C/A snv 9.9E-03 0.700 1.000 1 2015 2015