rs387907252, VAX1

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.
MICROPHTHALMIA, SYNDROMIC 11
CUI: C3553077
Disease: MICROPHTHALMIA, SYNDROMIC 11
1 0.882 0.160 10 117134559 missense variant G/T snv 0.800 1.000 1 2012 2012
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.882 0.160 10 117134559 missense variant G/T snv 0.010 1.000 1 2012 2012