MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21 ×
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: rs121434591
rs121434591 		1.000 5 139307669 missense variant C/G snv
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015
dbSNP: rs587777300
rs587777300 		1.000 5 139307759 missense variant T/G snv 1.2E-05 7.0E-06
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015
dbSNP: rs587777301
rs587777301 		1.000 5 139322683 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015
dbSNP: rs587777302
rs587777302 		1.000 5 139307875 missense variant C/T snv 7.0E-06
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 1.000 4 2009 2015