AGTPBP1, ATP/GTP binding protein 1, 23287

N. diseases: 63; N. variants: 10
Disease: Small hand ×
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: rs1554699491
rs1554699491 		0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs780631499
rs780631499 		0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0