rs397515481, FGFR1

N. diseases: 1
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.
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
CUI: C1845146
Disease: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
17 1.000 0.280 8 38428048 missense variant A/G snv 0.800 1.000 2 2013 2014