Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs759549373
rs759549373
DYNC2H1
0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 1.000 1 2016 2016
dbSNP: rs771487311
rs771487311
DYNC2H1
0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 1.000 1 2016 2016
dbSNP: rs1260978141
rs1260978141
DYNC2H1
1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs1565311145
rs1565311145
DYNC2H1
0.882 0.120 11 103116677 stop gained T/A snv
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs1565317399
rs1565317399
DYNC2H1
0.882 0.120 11 103122879 stop gained C/T snv
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs371011047
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs376892534
rs376892534
DYNC2H1
0.925 0.120 11 103184880 intron variant G/A snv 8.1E-06
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs764926983
rs764926983
DYNC2H1
0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs767846762
rs767846762
DYNC2H1
0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0