Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs780843272
STX1B
16 30993183 stop gained G/A;C snv 7.0E-06 1
rs794727741
KCNQ2
20 63442521 missense variant G/A snv 1
rs797045941
SCN1A-AS1 ; SCN1A
2 166051964 missense variant A/G snv 1
rs797045942
SCN2A
2 165344559 missense variant G/A;C snv 1
rs868732642
MFSD8
4 127938782 splice donor variant C/A;T snv 4.0E-06 1
rs886041276
POLG
15 89319275 frameshift variant CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- delins 1
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 18
rs1024611 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 4
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 30
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs74315401
PRNP
0.683 0.320 20 4699525 missense variant C/T snv 2
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs63750231
PSEN1
0.689 0.160 14 73198100 missense variant A/C;G snv 5
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32