rs121912986, DSPP

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
CUI: C1854146
Disease: Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1
3 0.882 0.200 4 87610957 missense variant C/A;T snv 4.0E-06 0.700 1.000 2 2001 2012
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1
CUI: C4016014
Disease: DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1
2 0.882 0.200 4 87610957 missense variant C/A;T snv 4.0E-06 0.700 0
Dentinogenesis Imperfecta
CUI: C0011436
Disease: Dentinogenesis Imperfecta
7 0.882 0.200 4 87610957 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007