MYH7B, myosin heavy chain 7B, 57644

N. diseases: 18; N. variants: 20
Disease: Short stature ×
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: rs1430282035
rs1430282035 		20 34996388 missense variant G/A snv 8.3E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs771172991
rs771172991 		20 34987284 splice donor variant AG/- delins 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0