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: rs121908287
rs121908287
FIG4
0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		0.820 1.000 7 2007 2018
dbSNP: rs121908290
rs121908290
FIG4
1.000 0.080 6 109715168 missense variant G/T snv
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.800 1.000 0 2009 2009
dbSNP: rs397509395
rs397509395
FIG4
1.000 0.160 6 109727130 missense variant G/A snv
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs397514707
rs397514707
FIG4
1.000 0.160 6 109735176 missense variant T/C snv 7.0E-06
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs587777714
rs587777714
FIG4
1.000 0.080 6 109743137 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		0.800 1.000 0 2007 2011
dbSNP: rs587777716
rs587777716
FIG4
1.000 6 109791543 missense variant A/T snv
CUI: C4013648
Disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL 		0.800 1.000 0 2014 2014
dbSNP: rs377357931
rs377357931
FIG4
1.000 0.080 6 109760253 stop gained C/T snv 3.6E-05 8.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1993 2015
dbSNP: rs747768373
rs747768373
FIG4
6 109792665 splice donor variant G/A snv 8.0E-06 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1993 2015
dbSNP: rs121908287
rs121908287
FIG4
0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 5 2007 2014
dbSNP: rs1554309093
rs1554309093
FIG4
1.000 0.080 6 109792591 stop gained C/T snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 2 2014 2017
dbSNP: rs745790694
rs745790694
FIG4
1.000 0.080 6 109796772 stop gained C/T snv 2.4E-05 1.4E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		0.700 1.000 2 2011 2013
dbSNP: rs764717219
rs764717219
FIG4
0.882 0.120 6 109738435 frameshift variant G/- delins 3.2E-05 1.4E-05
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 2 2007 2011
dbSNP: rs121908287
rs121908287
FIG4
0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.700 1.000 1 2017 2017
dbSNP: rs150301327
rs150301327
FIG4
1.000 0.080 6 109785020 missense variant A/G snv 8.8E-05 7.7E-05
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.700 1.000 1 2017 2017
dbSNP: rs1554300952
rs1554300952
FIG4
1.000 0.080 6 109735148 splice acceptor variant A/G snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 1 2013 2013
dbSNP: rs377357931
rs377357931
FIG4
1.000 0.080 6 109760253 stop gained C/T snv 3.6E-05 8.4E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		0.700 1.000 1 2011 2011
dbSNP: rs750712213
rs750712213
FIG4
1.000 0.080 6 109791478 frameshift variant CT/- delins 1.6E-05 2.1E-05
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 1 2013 2013
dbSNP: rs764717219
rs764717219
FIG4
0.882 0.120 6 109738435 frameshift variant G/- delins 3.2E-05 1.4E-05
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.700 1.000 1 2017 2017
dbSNP: rs772320287
rs772320287
FIG4
1.000 0.080 6 109766807 frameshift variant -/A delins 8.0E-06 7.0E-06
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 1.000 1 2011 2011
dbSNP: rs121908288
rs121908288
FIG4
0.925 0.120 6 109735199 stop gained C/A;T snv 8.0E-06; 2.8E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		0.700 0
dbSNP: rs121908288
rs121908288
FIG4
0.925 0.120 6 109735199 stop gained C/A;T snv 8.0E-06; 2.8E-05
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		0.700 0
dbSNP: rs1368013631
rs1368013631
FIG4
1.000 0.080 6 109743678 frameshift variant ATCAGGCA/- del 7.0E-06
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		0.700 0
dbSNP: rs1554303800
rs1554303800
FIG4
1.000 0.080 6 109760316 frameshift variant A/- delins
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs1562648373
rs1562648373
FIG4
1.000 0.080 6 109727110 frameshift variant T/- delins
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		0.700 0
dbSNP: rs397509394
rs397509394
FIG4
1.000 0.160 6 109760372 frameshift variant GT/- del
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		0.700 0