DNAH11, dynein axonemal heavy chain 11, 8701

N. diseases: 110; N. variants: 109
Disease: Melanocortin 4 Receptor Deficiency ×
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: rs1178187217
rs1178187217 		0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs201943194
rs201943194 		0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0