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: rs137853029
rs137853029
DYNC2H1
1 1.000 0.080 11 103245374 stop gained G/A;T snv 0.700 0
dbSNP: rs137853032
rs137853032
DYNC2H1
1 1.000 0.080 11 103209933 stop gained C/A;T snv 1.7E-05 0.700 0
dbSNP: rs1384888093
rs1384888093
DYNC2H1
1 1.000 0.080 11 103186442 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs1386343205
rs1386343205
DYNC2H1
1 1.000 0.080 11 103191604 missense variant T/C snv 4.2E-06 0.700 0
dbSNP: rs1453448143
rs1453448143
DYNC2H1
1 1.000 0.080 11 103316605 frameshift variant AGAC/- delins 0.700 0
dbSNP: rs1456300819
rs1456300819
WDR60
1 1.000 0.080 7 158926213 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1461272672
rs1461272672
DYNC2H1
1 1.000 0.080 11 103168956 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1554478948
rs1554478948
WDR60
1 1.000 0.080 7 158930469 inframe insertion -/AGG delins 0.700 0
dbSNP: rs1554770620
rs1554770620
SPTAN1 ; WDR34
1 1.000 0.080 9 128633958 missense variant T/G snv 0.700 0
dbSNP: rs1554771066
rs1554771066
WDR34
1 1.000 0.080 9 128634843 missense variant T/C snv 0.700 0
dbSNP: rs1555041449
rs1555041449
DYNC2H1
1 1.000 0.080 11 103129001 missense variant T/A snv 0.700 0
dbSNP: rs1555052524
rs1555052524
DYNC2H1
1 1.000 0.080 11 103161008 frameshift variant T/- delins 0.700 0
dbSNP: rs1555054771
rs1555054771
DYNC2H1
1 1.000 0.080 11 103168812 missense variant T/A snv 0.700 0
dbSNP: rs1555057503
rs1555057503
DYNC2H1
1 1.000 0.080 11 103177797 missense variant G/A snv 0.700 0
dbSNP: rs1555057881
rs1555057881
DYNC2H1
1 1.000 0.080 11 103179157 missense variant A/G snv 0.700 0
dbSNP: rs1555060411
rs1555060411
DYNC2H1
1 1.000 0.080 11 103184980 missense variant T/C snv 0.700 0
dbSNP: rs1555060940
rs1555060940
DYNC2H1
1 1.000 0.080 11 103186240 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555061205
rs1555061205
DYNC2H1
1 1.000 0.080 11 103186474 missense variant T/C snv 0.700 0
dbSNP: rs1555061228
rs1555061228
DYNC2H1
1 1.000 0.080 11 103186491 missense variant T/C snv 0.700 0
dbSNP: rs1555062340
rs1555062340
DYNC2H1
1 1.000 0.080 11 103188624 missense variant C/A snv 0.700 0
dbSNP: rs1555063811
rs1555063811
DYNC2H1
1 1.000 0.080 11 103191515 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555064376
rs1555064376
DYNC2H1
1 1.000 0.080 11 103192199 missense variant T/C snv 0.700 0
dbSNP: rs1555066796
rs1555066796
DYNC2H1
1 1.000 0.080 11 103197995 inframe deletion TTACCTCCA/- delins 0.700 0
dbSNP: rs1555071484
rs1555071484
DYNC2H1
1 1.000 0.080 11 103215755 missense variant T/C snv 0.700 0
dbSNP: rs1555071503
rs1555071503
DYNC2H1
1 1.000 0.080 11 103215791 frameshift variant GT/- delins 0.700 0