COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Rhizomelia ×
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: rs66527965
rs66527965 		0.763 0.240 17 50193038 missense variant C/A;T snv
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		0.700 0