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: rs1057518934
rs1057518934
HERC2
8 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
dbSNP: rs1553603732
rs1553603732
DES
10 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
dbSNP: rs1554121671
rs1554121671
SYNGAP1
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1555740394
rs1555740394
PRR12
5 0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs386834055
rs386834055
VPS13B
9 0.925 0.320 8 99853469 frameshift variant -/A delins 0.700 0
dbSNP: rs1555247805
rs1555247805
MED13L
4 0.925 0.160 12 116008442 frameshift variant A/- del 0.700 0
dbSNP: rs775769424
rs775769424
BBS1 ; ZDHHC24
11 0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 0.700 0
dbSNP: rs886043676
rs886043676
DMD
3 X 31178766 frameshift variant G/- del 0.700 0