PROM1, prominin 1, 8842

N. diseases: 477; N. variants: 33
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs543698823
rs543698823
0.882 0.080 4 16006637 frameshift variant -/A delins 2.2E-04 2.1E-04
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 2 1999 2009
dbSNP: rs137853006
rs137853006
0.776 0.080 4 16013299 missense variant G/A snv
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 1.000 1 2008 2008
dbSNP: rs1210104601
rs1210104601
1.000 0.080 4 16038959 frameshift variant -/T delins 1.4E-05
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs775957498
rs775957498
1.000 0.080 4 16008947 splice donor variant A/G snv 3.3E-05 3.5E-05
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886037880
rs886037880
0.925 0.080 4 16009093 stop gained A/T snv 7.0E-06
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs886037881
rs886037881
0.925 0.080 4 15984366 intron variant ACAGGGAAAC/- delins
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0