MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Familial (FPAH) ×
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: rs63749855
rs63749855 		0.790 0.200 17 46014271 missense variant T/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs63750416
rs63750416 		0.851 0.120 17 46010373 missense variant A/C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2001 2001
dbSNP: rs63750570
rs63750570 		0.827 0.120 17 46018629 missense variant G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005
dbSNP: rs63750573
rs63750573 		0.882 0.120 17 46018627 missense variant A/G snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2004 2004
dbSNP: rs63750905
rs63750905 		0.882 0.120 17 46018624 missense variant G/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2005 2005
dbSNP: rs63751273
rs63751273 		0.645 0.280 17 46010389 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2017 2017
dbSNP: rs63751438
rs63751438 		0.776 0.120 17 46010388 missense variant C/T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2008 2008
dbSNP: rs767543900
rs767543900 		0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2004 2004