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: rs11204682
rs11204682
ENSA
1 150623061 intron variant G/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs4970966
rs4970966
ENSA
1 150611627 intron variant G/T snv 0.16
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 2 2016 2018
dbSNP: rs4970966
rs4970966
ENSA
1 150611627 intron variant G/T snv 0.16
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 2 2016 2018
dbSNP: rs11204677
rs11204677
ENSA ; LOC107985203
1 150602219 intron variant C/A;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs11204682
rs11204682
ENSA
1 150623061 intron variant G/A;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs11204682
rs11204682
ENSA
1 150623061 intron variant G/A;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs11204682
rs11204682
ENSA
1 150623061 intron variant G/A;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs12045807
rs12045807
ENSA
0.925 0.080 1 150612358 intron variant T/C snv 0.18
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.700 1.000 1 2016 2016
dbSNP: rs12045807
rs12045807
ENSA
0.925 0.080 1 150612358 intron variant T/C snv 0.18
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.700 1.000 1 2016 2016
dbSNP: rs6681426
rs6681426
ENSA
1 150614495 intron variant G/A snv 0.66
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2015 2015
dbSNP: rs6681426
rs6681426
ENSA
1 150614495 intron variant G/A snv 0.66
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015