rs775277800, RTTN

N. diseases: 4
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.
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.700 0
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
7 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.700 0
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
Primary microcephaly
CUI: C0431350
Disease: Primary microcephaly
9 0.851 0.120 18 70166989 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017