rs121912765, BMP4

N. diseases: 2
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.
MICROPHTHALMIA, SYNDROMIC 6 (disorder)
CUI: C1864689
Disease: MICROPHTHALMIA, SYNDROMIC 6 (disorder)
2 0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06 0.800 1.000 1 2008 2008
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06 0.010 1.000 1 2008 2008