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: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0042798
Disease: Low Vision
Low Vision
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0009806
Disease: Constipation
Constipation
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C4024166
Disease: Crumpled ear
Crumpled ear
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C4317146
Disease: Acid reflux
Acid reflux
0.700 0
dbSNP: rs1567941252
rs1567941252
0.807 0.240 17 38739601 missense variant G/A snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 0