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: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1555639411
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017