Source: CLINVAR

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: rs397514745
rs397514745
KARS1
1.000 16 75636503 missense variant A/G snv 2.8E-05
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 1.000 1 2013 2017
dbSNP: rs397514746
rs397514746
KARS1
1.000 16 75631726 missense variant C/T snv 1.4E-05
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 1.000 1 2013 2017
dbSNP: rs267607194
rs267607194
KARS1
1.000 16 75640258 missense variant A/T snv
CUI: C3150897
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.800 1.000 0 2010 2010
dbSNP: rs1567498374
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.700 0
dbSNP: rs1567498374
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 0
dbSNP: rs1567498374
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs1567498374
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1567498374
rs1567498374
KARS1
0.882 0.160 16 75630493 frameshift variant G/-;GG delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs201650281
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 0
dbSNP: rs201650281
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.700 0
dbSNP: rs201650281
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.700 0
dbSNP: rs201650281
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.700 0
dbSNP: rs201650281
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs201650281
rs201650281
KARS1
0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.700 0
dbSNP: rs587776688
rs587776688
KARS1
1.000 16 75636504 frameshift variant -/AA delins
CUI: C3150897
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.700 0
dbSNP: rs772410450
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.700 0
dbSNP: rs772410450
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.700 0
dbSNP: rs772410450
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs772410450
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.700 0
dbSNP: rs772410450
rs772410450
KARS1
0.882 0.200 16 75635688 missense variant A/C snv 4.0E-06 1.4E-05
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.700 0