rs1388607733, GLI2

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.
CULLER-JONES SYNDROME
CUI: C4014479
Disease: CULLER-JONES SYNDROME
11 0.925 0.160 2 120927402 frameshift variant -/T delins 0.700 0
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
12 0.925 0.160 2 120927402 frameshift variant -/T delins 0.700 0