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: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.800 1.000 4 2015 2017
dbSNP: rs777313457
rs777313457
1.000 0.080 11 72358930 missense variant T/C snv 4.0E-06
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.800 1.000 2 2015 2016
dbSNP: rs150857620
rs150857620
1.000 0.080 11 72294395 missense variant T/A;C snv 1.6E-05; 3.6E-05
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.800 1.000 1 2015 2015
dbSNP: rs748915609
rs748915609
1.000 0.080 11 72295567 missense variant C/T snv 8.0E-06
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.800 1.000 1 2015 2015
dbSNP: rs759500860
rs759500860
1.000 0.080 11 72293554 missense variant C/A snv 4.0E-06
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.800 1.000 1 2015 2015
dbSNP: rs1555087619
rs1555087619
11 72308526 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 4 2015 2015
dbSNP: rs200203460
rs200203460
0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 4 2015 2017
dbSNP: rs375934856
rs375934856
1.000 0.080 11 72293576 missense variant C/T snv 4.0E-06
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs748010262
rs748010262
1.000 0.080 11 72294125 missense variant G/A;T snv
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs777202372
rs777202372
1.000 0.080 11 72358997 stop gained G/A;T snv 4.0E-06
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs786205137
rs786205137
1.000 0.080 11 72302328 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs786205138
rs786205138
1.000 0.080 11 72294047 missense variant T/C snv 8.0E-06 1.4E-05
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs786205139
rs786205139
1.000 0.080 11 72329709 stop gained T/A snv
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs876657402
rs876657402
1.000 0.080 11 72294410 frameshift variant A/- del
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs886041117
rs886041117
1.000 0.080 11 72358940 missense variant C/T snv
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2016 2016
dbSNP: rs886041118
rs886041118
1.000 0.080 11 72295612 missense variant A/G snv
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs886041119
rs886041119
1.000 0.080 11 72293553 frameshift variant -/C delins
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs886041120
rs886041120
1.000 0.080 11 72293446 missense variant A/T snv
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7
0.700 1.000 1 2015 2015
dbSNP: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
0.700 0
dbSNP: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
0.700 0
dbSNP: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0003467
Disease: Anxiety
Anxiety
0.700 0
dbSNP: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.700 0
dbSNP: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.700 0
dbSNP: rs144078282
rs144078282
0.776 0.400 11 72302339 missense variant T/A;C snv 1.8E-04; 2.0E-04
CUI: C0553721
Disease: Diminished sweating
Diminished sweating
0.700 0