PROM1, prominin 1, 8842

N. diseases: 306; N. variants: 20
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: rs137853006
rs137853006
0.756 0.143 4 16013299 missense variant G/A snp
CUI: C2675210
Disease: CONE-ROD DYSTROPHY 12 (disorder)
CONE-ROD DYSTROPHY 12 (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 5 1999 2014
dbSNP: rs137853907
rs137853907
0.923 0.071 4 16000517 stop gained G/T snp 2.8E-05 1.3E-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 2014 2014
dbSNP: rs886037880
rs886037880
1.000 0.071 4 16009093 stop gained A/T snp
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 2014 2014
dbSNP: rs886037881
rs886037881
1.000 0.071 4 15984372 intron variant CACAGGGAAAC/C in-del
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 2016 2016