rs1553471273, GLI2

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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.160 2 120951309 frameshift variant G/- delins 0.700 1.000 5 2003 2013
CULLER-JONES SYNDROME
CUI: C4014479
Disease: CULLER-JONES SYNDROME
11 0.925 0.160 2 120951309 frameshift variant G/- 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 120951309 frameshift variant G/- delins 0.700 0