Source: CURATED

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: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C1856691
Disease: Impaired proprioception
Impaired proprioception 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0030196
Disease: Pain in limb
Pain in limb 		0.700 0
dbSNP: rs368900406
rs368900406
MPV17
0.827 0.160 2 27312255 non coding transcript exon variant A/C snv 8.0E-06 2.1E-05
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		0.700 0
dbSNP: rs397507438
rs397507438
MPV17
1.000 0.160 2 27313033 frameshift variant TGGTGTTCCTGCAGACCCCGCCTCTC/- delins
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 0
dbSNP: rs749361266
rs749361266
MPV17
1.000 0.160 2 27312213 splice donor variant C/T snv 8.0E-06
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 0
dbSNP: rs754051090
rs754051090
MPV17
1.000 0.160 2 27313074 stop gained G/A snv
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 0
dbSNP: rs777604559
rs777604559
MPV17
1.000 0.160 2 27313045 frameshift variant T/- delins
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 0
dbSNP: rs976220715
rs976220715
MPV17
1.000 0.160 2 27322456 missense variant A/C snv
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 0
dbSNP: rs267607261
rs267607261
MPV17
0.807 0.280 2 27312753 stop gained C/T snv 8.0E-06
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 1.000 1 2007 2007
dbSNP: rs121909724
rs121909724
MPV17
1.000 0.160 2 27312510 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 1.000 1 2008 2008
dbSNP: rs1122227
rs1122227
MPV17
2 27321418 intron variant C/T snv 0.28
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4665965
rs4665965
MPV17
0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4665965
rs4665965
MPV17
0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs4665965
rs4665965
MPV17
0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 1 2013 2013
dbSNP: rs4665965
rs4665965
MPV17
0.925 0.120 2 27313513 intron variant T/A;C snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs375401970
rs375401970
MPV17
1.000 0.160 2 27312768 missense variant G/C snv 7.2E-05 7.7E-05
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.800 1.000 2 2014 2014
dbSNP: rs863224072
rs863224072
MPV17
1.000 0.160 2 27313059 missense variant G/A snv 2.8E-05
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 1.000 1 2014 2014
dbSNP: rs1057524366
rs1057524366
MPV17
1.000 0.160 2 27312684 missense variant T/C;G snv
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 1.000 1 2018 2018
dbSNP: rs1553383467
rs1553383467
MPV17
1.000 0.160 2 27312572 stop gained A/T snv
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		0.700 1.000 1 2018 2018