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: C2673700
Disease: Brisk reflexes
Brisk reflexes 		0.700 0
dbSNP: rs387906653
rs387906653
SLC20A2
0.882 0.120 8 42428829 stop gained C/A;T snv
CUI: C0236000
Disease: Jaw pain
Jaw pain 		0.700 0
dbSNP: rs387906653
rs387906653
SLC20A2
0.882 0.120 8 42428829 stop gained C/A;T snv
CUI: C4023353
Disease: Abnormality of coordination
Abnormality of coordination 		0.700 0
dbSNP: rs387906653
rs387906653
SLC20A2
0.882 0.120 8 42428829 stop gained C/A;T snv
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0.700 0
dbSNP: rs387906653
rs387906653
SLC20A2
0.882 0.120 8 42428829 stop gained C/A;T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 0
dbSNP: rs398122395
rs398122395
SLC20A2
1.000 0.080 8 42463012 frameshift variant A/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs398122396
rs398122396
SLC20A2
1.000 0.080 8 42417931 frameshift variant GGAG/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs398122397
rs398122397
SLC20A2
1.000 0.080 8 42459925 frameshift variant CA/- delins
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C4551624
Disease: Idiopathic basal ganglia calcification 1
Idiopathic basal ganglia calcification 1 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C0042109
Disease: Urticaria
Urticaria 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C0030554
Disease: Paresthesia
Paresthesia 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.700 0