SYP, synaptophysin, 6855

N. diseases: 243; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852561
rs137852561
1.000 X 49191730 missense variant C/G;T snv
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96
0.800 1.000 1 2009 2009
dbSNP: rs139475570
rs139475570
1.000 X 49191502 missense variant C/T snv 1.3E-03 1.2E-03
CUI: C3275408
Disease: MENTAL RETARDATION, X-LINKED 96
MENTAL RETARDATION, X-LINKED 96
0.700 1.000 1 2009 2009