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: rs201948500
rs201948500
DYNC2LI1
0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.800 1.000 0 2015 2015
dbSNP: rs201948500
rs201948500
DYNC2LI1
0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
Asphyxiating Thoracic Dystrophy 1 		0.700 0
dbSNP: rs201948500
rs201948500
DYNC2LI1
0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs201948500
rs201948500
DYNC2LI1
0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0