AEBP1, AE binding protein 1, 165

N. diseases: 69; N. variants: 6
Disease: Hyperextensible skin ×
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: rs1443187318
rs1443187318 		0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.700 0