Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1843921
Disease: Postural instability
Postural instability 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C3665596
Disease: Warts
Warts 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0015310
Disease: Exotropia
Exotropia 		0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 0