rs28935468, MECP2

N. diseases: 4
Source: BEFREE ×
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.
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
54 0.732 0.240 X 154030912 missense variant G/A snv 0.870 1.000 7 1999 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
250 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
Pain
CUI: C0030193
Disease: Pain
182 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
15 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010