EXOSC2, exosome component 2, 23404

N. diseases: 37; N. variants: 2
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: rs537467155
rs537467155 		1.000 9 130693880 missense variant G/C;T snv 4.0E-06; 1.6E-05 5.6E-05
CUI: C4540367
Disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 		0.800 1.000 1 2016 2016
dbSNP: rs756204866
rs756204866 		1.000 9 130702231 missense variant G/A;C snv 6.8E-05
CUI: C4540367
Disease: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 		0.700 0