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: rs1032242817
rs1032242817
DHCR7
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1057518871
rs1057518871
COL5A1
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs113871094
rs113871094
FBN1
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs118192174
rs118192174
RYR1
5 0.882 0.200 19 38499961 missense variant T/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs142433332
rs142433332
DARS2
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1470699812
rs1470699812
FLNB
5 0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
DARS2
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs1554846212
rs1554846212
KAT6B ; DUPD1
9 0.851 0.160 10 75030037 missense variant C/T snv 0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1555630216
rs1555630216
PIEZO2
22 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555648288
rs1555648288
PIEZO2
22 0.790 0.160 18 10795003 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
15 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
dbSNP: rs387906905
rs387906905
TRPV4
10 0.882 0.120 12 109798819 missense variant C/T snv 0.700 0
dbSNP: rs61752129
rs61752129
PEX26
14 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs730882191
rs730882191
PITX1
1 1.000 0.080 5 135028925 frameshift variant GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- delins 0.700 0
dbSNP: rs730882245
rs730882245
KIAA1109
6 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
dbSNP: rs759244819
rs759244819
ALG12
3 0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 0.700 0
dbSNP: rs761221480
rs761221480
ALG12
3 0.882 0.120 22 49913649 frameshift variant C/- del 1.6E-05 7.0E-06 0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0