STN1, STN1 subunit of CST complex, 79991

N. diseases: 82; N. variants: 19
Disease: Cerebral Palsy ×
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: rs1057519583
rs1057519583 		0.882 0.160 10 103900115 missense variant C/G snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs765462548
rs765462548 		0.882 0.160 10 103898989 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		Nervous System Diseases 0.010 1.000 1 2019 2019