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: rs1014959895
rs1014959895
PRMT7
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs1057518907
rs1057518907
GNAS
16 0.732 0.320 20 58891811 stop gained C/G;T snv 0.700 0
dbSNP: rs121912504
rs121912504
KCNH2
6 0.851 0.200 7 150951711 missense variant G/A snv 0.700 0
dbSNP: rs121913560
rs121913560
MC4R
1 1.000 0.080 18 60371842 missense variant T/C snv 8.0E-05 1.6E-04 0.700 0
dbSNP: rs121913561
rs121913561
MC4R
1 1.000 0.080 18 60371529 missense variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121913562
rs121913562
MC4R
1 1.000 0.080 18 60371538 missense variant C/A;T snv 4.0E-06 0.800 0
dbSNP: rs121913563
rs121913563
MC4R
1 1.000 0.080 18 60371827 missense variant C/T snv 5.4E-04 3.0E-04 0.800 0
dbSNP: rs121913565
rs121913565
MC4R
1 1.000 0.080 18 60372061 missense variant T/C snv 0.700 0
dbSNP: rs121913567
rs121913567
MC4R
1 1.000 0.080 18 60371694 missense variant G/A snv 0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs13447325
rs13447325
MC4R
1 1.000 0.080 18 60372240 missense variant T/A snv 6.8E-05 1.3E-04 0.700 0
dbSNP: rs13447326
rs13447326
MC4R
1 1.000 0.080 18 60372117 missense variant G/A snv 0.700 0
dbSNP: rs13447332
rs13447332
MC4R
1 1.000 0.080 18 60371857 missense variant G/A;T snv 2.0E-05 0.700 0
dbSNP: rs13447333
rs13447333
MC4R
2 0.925 0.120 18 60371808 missense variant C/T snv 1.6E-05 0.700 0
dbSNP: rs13447336
rs13447336
MC4R
1 1.000 0.080 18 60371596 missense variant C/T snv 4.0E-05 7.7E-05 0.700 0
dbSNP: rs13447337
rs13447337
MC4R
1 1.000 0.080 18 60371400 missense variant A/G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1553548194
rs1553548194
SCN1A ; SCN1A-AS1
3 1.000 0.080 2 166048938 inframe deletion AAT/- delins 0.700 0
dbSNP: rs1800571
rs1800571
PPARG
2 0.925 0.080 3 12381349 missense variant C/A snv 1.4E-05 0.700 0
dbSNP: rs193922650
rs193922650
LEPR
1 1.000 0.080 1 65636397 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs193922685
rs193922685
MC4R
1 1.000 0.080 18 60371812 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs193922687
rs193922687
MC4R
1 1.000 0.080 18 60371514 frameshift variant CA/-;CACA delins 0.700 0
dbSNP: rs199546979
rs199546979
NRXN1
1 1.000 0.080 2 50236836 stop gained G/A snv 0.700 0
dbSNP: rs2229707
rs2229707
UCP3
2 0.925 0.080 11 74006202 missense variant C/T snv 1.0E-02 3.9E-02 0.700 0
dbSNP: rs369841551
rs369841551
MC4R
3 0.882 0.120 18 60371884 stop gained G/A;T snv 4.0E-06 0.700 0