DYNC2H1, dynein cytoplasmic 2 heavy chain 1, 79659

N. diseases: 136; N. variants: 159
Disease: Disproportionate tall stature ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs759549373
rs759549373 		0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 1.000 1 2016 2016
dbSNP: rs771487311
rs771487311 		0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 1.000 1 2016 2016