Gene: DYNC2H1 ×
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: rs137853027
rs137853027
DYNC2H1
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
dbSNP: rs1565311145
rs1565311145
DYNC2H1
7 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
dbSNP: rs1565317399
rs1565317399
DYNC2H1
6 0.882 0.120 11 103122879 stop gained C/T snv 0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
9 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
dbSNP: rs371011047
rs371011047
DYNC2H1
9 0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 0.700 0
dbSNP: rs376892534
rs376892534
DYNC2H1
6 0.925 0.120 11 103184880 intron variant G/A snv 8.1E-06 0.700 0
dbSNP: rs764926983
rs764926983
DYNC2H1
9 0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 0.700 0
dbSNP: rs767846762
rs767846762
DYNC2H1
7 0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 0.700 0