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: rs398124645
rs398124645 		1.000 8 119783548 missense variant A/G snv
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.800 1.000 2 2011 2013
dbSNP: rs398124655
rs398124655 		1.000 8 119793396 missense variant G/T snv
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 1.000 2 2011 2013
dbSNP: rs398124656
rs398124656 		1.000 8 119803881 missense variant G/A;C snv
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 1.000 2 2011 2013
dbSNP: rs10092747
rs10092747 		8 119736926 intron variant C/G;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019