Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11587400
rs11587400
PKMP1
1.000 0.040 1 114537037 non coding transcript exon variant C/G;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.800 1.000 1 2014 2014