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: rs201951824
rs201951824
DDC ; FIGNL1
0.925 0.080 7 50476625 missense variant C/T snv 4.8E-05 2.8E-05
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 3 2004 2010
dbSNP: rs137853207
rs137853207
DDC ; FIGNL1 ; DDC-AS1
1.000 7 50539926 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 0 2004 2004
dbSNP: rs137853208
rs137853208
DDC ; FIGNL1
0.925 0.080 7 50504025 missense variant G/A snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 0 2004 2004
dbSNP: rs137853209
rs137853209
DDC ; FIGNL1
1.000 7 50495369 missense variant A/G snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 0 2004 2004
dbSNP: rs137853210
rs137853210
DDC ; FIGNL1
1.000 7 50529339 missense variant T/G snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 0 2004 2004
dbSNP: rs137853211
rs137853211
DDC ; FIGNL1 ; DDC-AS1
1.000 7 50539958 missense variant G/A;T snv 3.6E-05
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 0 2004 2004
dbSNP: rs137853212
rs137853212
DDC ; FIGNL1
1.000 7 50499201 missense variant C/G;T snv 1.2E-05
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.800 1.000 0 2004 2004
dbSNP: rs1276093487
rs1276093487
DDC ; FIGNL1
1.000 7 50470173 splice acceptor variant T/C snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.700 1.000 2 2004 2010
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C4022801
Disease: Elevated CSF dopamine level
Elevated CSF dopamine level 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		0.700 0
dbSNP: rs142110773
rs142110773
DDC ; FIGNL1
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0020649
Disease: Hypotension
Hypotension 		0.700 0
dbSNP: rs1554411234
rs1554411234
DDC ; FIGNL1
1.000 7 50463322 missense variant C/A snv
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
Deficiency of aromatic-L-amino-acid decarboxylase 		0.700 0
dbSNP: rs1554411234
rs1554411234
DDC ; FIGNL1
1.000 7 50463322 missense variant C/A snv
CUI: C1847515
Disease: Paroxysmal involuntary eye movements
Paroxysmal involuntary eye movements 		0.700 0
dbSNP: rs1554411234
rs1554411234
DDC ; FIGNL1
1.000 7 50463322 missense variant C/A snv
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		0.700 0
dbSNP: rs1554411234
rs1554411234
DDC ; FIGNL1
1.000 7 50463322 missense variant C/A snv
CUI: C1837639
Disease: Intermittent hypothermia
Intermittent hypothermia 		0.700 0