Source: ALL

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: rs387906792
rs387906792
AARS1
1.000 0.080 16 70277088 missense variant T/A snv
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.800 1.000 3 2010 2012
dbSNP: rs786205157
rs786205157
AARS1
1.000 16 70277057 missense variant T/G snv 7.0E-06
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.800 0
dbSNP: rs267606621
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 1 2012 2012
dbSNP: rs267606621
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2010 2012
dbSNP: rs267606621
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.700 1.000 2 2010 2015
dbSNP: rs369774476
rs369774476
AARS1 ; EXOSC6
1.000 16 70252890 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 1.000 2 2015 2017
dbSNP: rs12149660
rs12149660
AARS1
16 70275334 intron variant G/A snv 9.0E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs777601008
rs777601008
AARS1
1.000 0.080 16 70268366 missense variant G/A snv 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2018 2018
dbSNP: rs143370729
rs143370729
AARS1
1.000 16 70255763 missense variant T/C snv 4.8E-05 4.2E-05
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 0
dbSNP: rs1555539157
rs1555539157
AARS1 ; EXOSC6
1.000 16 70252755 missense variant A/G snv
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 0
dbSNP: rs1555542415
rs1555542415
AARS1
1.000 0.080 16 70276971 missense variant A/G snv
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.700 0
dbSNP: rs797044801
rs797044801
AARS1
1.000 0.080 16 70254688 missense variant T/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs34087264
rs34087264
AARS1 ; DDX19B
0.925 0.080 16 70289223 intron variant C/T snv 0.43
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs34087264
rs34087264
AARS1 ; DDX19B
0.925 0.080 16 70289223 intron variant C/T snv 0.43
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015