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: rs7594645
rs7594645
FASTKD2 ; MIR3130-2
2 206781950 intron variant A/G snv 7.8E-02
CUI: C0561843
Disease: Memory, Episodic
Memory, Episodic 		0.700 1.000 1 2015 2015
dbSNP: rs118203917
rs118203917
FASTKD2
1.000 0.080 2 206774264 stop gained C/T snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs755068980
rs755068980
FASTKD2
1.000 0.080 2 206788032 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0