Source: CLINVAR

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: rs869312873
rs869312873
NALCN
0.925 0.200 13 101089846 splice region variant C/T snv 7.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 1.000 1 2016 2016