PFN1, profilin 1, 5216

N. diseases: 119; N. variants: 8
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18 ×
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: rs140547520
rs140547520 		0.851 0.120 17 4945973 missense variant T/C snv 5.0E-04 5.9E-04
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012
dbSNP: rs387907264
rs387907264 		0.851 0.080 17 4946742 missense variant A/C snv
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012
dbSNP: rs387907265
rs387907265 		0.925 0.080 17 4945982 missense variant A/C;G snv
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012
dbSNP: rs387907266
rs387907266 		0.882 0.080 17 4945970 missense variant C/A snv 4.0E-06
CUI: C3553719
Disease: AMYOTROPHIC LATERAL SCLEROSIS 18
AMYOTROPHIC LATERAL SCLEROSIS 18 		0.800 1.000 1 2012 2012