rs1256028809, RTTN

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.
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
CUI: C3553831
Disease: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
7 1.000 18 70030114 splice region variant A/T snv 4.0E-06 0.700 0
Mild microcephaly
CUI: C1836806
Disease: Mild microcephaly
5 1.000 18 70030114 splice region variant A/T snv 4.0E-06 0.700 0
Mild short stature
CUI: C3150077
Disease: Mild short stature
8 1.000 18 70030114 splice region variant A/T snv 4.0E-06 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 1.000 18 70030114 splice region variant A/T snv 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 18 70030114 splice region variant A/T snv 4.0E-06 0.700 0