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: rs771487311
rs771487311
DYNC2H1
0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		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: rs771487311
rs771487311
DYNC2H1
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
dbSNP: rs771487311
rs771487311
DYNC2H1
0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.700 0
dbSNP: rs771487311
rs771487311
DYNC2H1
0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 0