rs1563436265, FGFR1

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.
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 1.000 0.280 8 38414875 missense variant C/G snv 0.700 0
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
17 1.000 0.280 8 38414875 missense variant C/G snv 0.700 0