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: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C0152427
Disease: Polydactyly
Polydactyly 		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: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		0.700 0