rs1555380716, SLC12A6

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.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.882 0.120 15 34255385 frameshift variant -/C delins 0.700 0