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: rs606231456
rs606231456 		1.000 5 150545467 missense variant G/A snv
CUI: C4015283
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.800 1.000 1 2014 2014
dbSNP: rs606231457
rs606231457 		1.000 5 150542927 missense variant G/T snv
CUI: C4015283
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.800 1.000 1 2014 2014
dbSNP: rs606231458
rs606231458 		1.000 5 150542919 missense variant T/C snv
CUI: C4015283
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.800 1.000 1 2014 2014
dbSNP: rs606231459
rs606231459 		1.000 5 150541651 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C4015283
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 		0.800 1.000 1 2014 2014
dbSNP: rs17726577
rs17726577 		5 150504862 intron variant G/A snv 0.13
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2545339
rs2545339 		5 150531657 intron variant A/C;G;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2545342
rs2545342 		1.000 0.080 5 150536114 intron variant C/A;G snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3846706
rs3846706 		5 150496169 intron variant A/G snv 0.12
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2273235
rs2273235 		1.000 5 150527971 synonymous variant T/G snv 0.45 0.42
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		0.010 1.000 1 2019 2019