Source: BEFREE

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: rs1179887323
rs1179887323
AARS2 ; TMEM151B
1.000 0.080 6 44307303 missense variant C/A;T snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 1.000 1 2012 2012
dbSNP: rs1181554646
rs1181554646
AARS2
6 44311393 stop gained A/C snv 4.0E-06
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.010 1.000 1 2017 2017
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2019 2019
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
CUI: C1854776
Disease: Infantile cardiomyopathy
Infantile cardiomyopathy 		0.010 < 0.001 1 2019 2019
dbSNP: rs200105202
rs200105202
AARS2
6 44311148 missense variant G/A snv 8.8E-05 7.0E-05
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.010 1.000 1 2017 2017
dbSNP: rs325010
rs325010
AARS2 ; TMEM151B
1.000 0.120 6 44300181 3 prime UTR variant A/G snv 0.88
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2011 2011
dbSNP: rs369566535
rs369566535
AARS2 ; TMEM151B
6 44304659 missense variant G/A;C snv 3.6E-05; 2.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2019 2019
dbSNP: rs759670932
rs759670932
AARS2 ; TMEM151B
1.000 0.120 6 44307324 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.010 1.000 1 2019 2019