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: rs1468772495
rs1468772495
C12orf4
1.000 12 4518108 missense variant A/G snv 3.2E-05 4.9E-05
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 		0.800 1.000 0 2015 2017
dbSNP: rs730882197
rs730882197
C12orf4
0.925 0.040 12 4525342 frameshift variant -/GTTT delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs730882197
rs730882197
C12orf4
0.925 0.040 12 4525342 frameshift variant -/GTTT delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs730882197
rs730882197
C12orf4
0.925 0.040 12 4525342 frameshift variant -/GTTT delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs730882197
rs730882197
C12orf4
0.925 0.040 12 4525342 frameshift variant -/GTTT delins
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 		0.700 0
dbSNP: rs749969789
rs749969789
C12orf4
1.000 12 4500218 stop gained G/A snv 2.4E-05 1.4E-05
CUI: C4748732
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 		0.700 0