THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Blepharospasm ×
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: rs374512193
rs374512193 		0.925 0.120 8 42838177 missense variant T/C snv 5.2E-05 5.6E-05
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs762418293
rs762418293 		1.000 0.040 8 42838290 missense variant A/G snv 1.6E-05 6.3E-05
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		Eye Diseases 0.010 1.000 1 2016 2016