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: rs121918045
rs121918045
1.000 15 89333747 missense variant C/G snv
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.800 1.000 14 2001 2006
dbSNP: rs121918053
rs121918053
1.000 15 89321777 missense variant G/A snv 1.2E-05 2.8E-05
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 1.000 14 2001 2006
dbSNP: rs2307440
rs2307440
1.000 15 89318587 missense variant G/A snv 1.9E-04 1.5E-04
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 1.000 14 2001 2006
dbSNP: rs556925652
rs556925652
1.000 15 89325664 missense variant G/A snv 2.0E-05
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 1.000 14 2001 2006
dbSNP: rs61752784
rs61752784
1.000 15 89330133 missense variant C/G snv 3.4E-03 3.6E-03
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 1.000 14 2001 2006
dbSNP: rs753410045
rs753410045
1.000 15 89318710 missense variant C/G;T snv 2.0E-05
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 1.000 14 2001 2006
dbSNP: rs763393580
rs763393580
1.000 15 89321194 missense variant C/T snv 4.0E-05 2.1E-05
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 1.000 14 2001 2006
dbSNP: rs781168350
rs781168350
1.000 15 89326639 missense variant C/T snv 4.0E-06
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 1.000 14 2001 2006
dbSNP: rs121918050
rs121918050
1.000 15 89321743 missense variant T/C snv 4.0E-06 7.0E-06
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.800 1.000 2 2003 2009
dbSNP: rs1054875
rs1054875
15 89335895 non coding transcript exon variant A/G;T snv
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.700 1.000 1 2015 2015
dbSNP: rs2238300
rs2238300
15 89308349 intron variant G/A snv 0.37
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2014 2014
dbSNP: rs2307449
rs2307449
15 89320697 intron variant T/G snv 0.47
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.800 1.000 1 2012 2012
dbSNP: rs747828222
rs747828222
15 89333408 missense variant G/A;C;T snv 1.3E-05; 8.7E-06
CUI: C0026848
Disease: Myopathy
Myopathy
0.010 1.000 1 2015 2015
dbSNP: rs758454871
rs758454871
15 89333268 missense variant G/A snv 2.9E-05 3.5E-05
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.010 1.000 1 2013 2013
dbSNP: rs1010372555
rs1010372555
1.000 15 89318712 missense variant G/A;C snv 4.0E-06; 4.0E-06
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 0
dbSNP: rs1057517891
rs1057517891
15 89333346 stop gained G/A snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs745539599
rs745539599
1.000 15 89329042 missense variant C/A snv 4.0E-06 7.0E-06
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 0
dbSNP: rs768028281
rs768028281
1.000 15 89319064 missense variant C/T snv 8.0E-06 7.0E-06
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 0
dbSNP: rs774474723
rs774474723
1.000 15 89325679 missense variant G/A;C snv 4.1E-06
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
0.700 0
dbSNP: rs886041276
rs886041276
15 89319275 frameshift variant CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/- delins
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs2246900
rs2246900
1.000 0.040 15 89319135 intron variant T/C snv 0.37 0.32
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 1.000 1 2012 2012
dbSNP: rs2307439
rs2307439
1.000 0.040 15 89323966 intron variant C/T snv 2.6E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 1.000 1 2012 2012
dbSNP: rs3176238
rs3176238
1.000 0.040 15 89317196 3 prime UTR variant C/A;T snv
CUI: C1562585
Disease: Leprosy, Multibacillary
Leprosy, Multibacillary
0.010 1.000 1 2017 2017
dbSNP: rs61756401
rs61756401
1.000 0.040 15 89329018 synonymous variant C/T snv 4.2E-03 2.7E-03
CUI: C0023343
Disease: Leprosy
Leprosy
0.010 1.000 1 2017 2017
dbSNP: rs139590686
rs139590686
0.925 0.080 15 89321007 missense variant T/C;G snv 1.1E-04
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.800 1.000 20 2004 2017