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: rs387906653
rs387906653
SLC20A2
0.882 0.120 8 42428829 stop gained C/A;T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.800 1.000 1 2005 2014
dbSNP: rs387906652
rs387906652
SLC20A2
0.925 0.080 8 42417960 missense variant G/A;C snv 4.0E-06
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.800 1.000 0 2005 2014
dbSNP: rs387906654
rs387906654
SLC20A2
1.000 0.080 8 42428768 missense variant G/A snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.800 1.000 0 2005 2014
dbSNP: rs1563431044
rs1563431044
SLC20A2
1.000 0.080 8 42417968 splice acceptor variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs1563452322
rs1563452322
SLC20A2
1.000 0.080 8 42436991 frameshift variant AC/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0085610
Disease: Sinus bradycardia
Sinus bradycardia 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C1854913
Disease: Soft tissue swelling of interphalangeal joints
Soft tissue swelling of interphalangeal joints 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0004604
Disease: Back Pain
Back Pain 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0037763
Disease: Spasm
Spasm 		0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
0.882 0.120 8 42437137 stop gained C/A snv
CUI: C0685661
Disease: Congenital anomaly of ischium
Congenital anomaly of ischium 		0.700 0
dbSNP: rs1563453866
rs1563453866
SLC20A2
1.000 0.080 8 42437316 missense variant T/G snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs1563490467
rs1563490467
SLC20A2
1.000 0.080 8 42465904 frameshift variant C/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs1563497714
rs1563497714
SLC20A2
1.000 0.080 8 42472203 missense variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs1563497719
rs1563497719
SLC20A2
1.000 0.080 8 42472204 missense variant C/T snv
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs1563498184
rs1563498184
SLC20A2
1.000 0.080 8 42472370 frameshift variant C/- del
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs387906652
rs387906652
SLC20A2
0.925 0.080 8 42417960 missense variant G/A;C snv 4.0E-06
CUI: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		0.700 0
dbSNP: rs387906653
rs387906653
SLC20A2
0.882 0.120 8 42428829 stop gained C/A;T snv
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		0.700 0