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: rs1561002040
rs1561002040
1.000 4 139454380 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature
0.700 0