rs121918550, AAAS

N. diseases: 5
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.
Glucocorticoid deficiency with achalasia
20 1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 0.810 1.000 2 2001 2008
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 0.700 1.000 6 1980 2015
Babinski Reflex
CUI: C0034935
Disease: Babinski Reflex
11 1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 0.700 0
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05 0.700 0