SPTA1, spectrin alpha, erythrocytic 1, 6708

N. diseases: 76; N. variants: 71
Disease: Red Blood Cell Count measurement ×
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: rs2157691
rs2157691 		1 158613048 intron variant G/C snv 0.24
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2246434
rs2246434 		1 158648665 intron variant G/A snv 0.26 0.22
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2479868
rs2479868 		1 158610279 3 prime UTR variant C/T snv 0.26
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2518491
rs2518491 		1 158615440 intron variant C/T snv 0.28 0.22
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2779116
rs2779116 		1 158615625 intron variant C/A;T snv 0.26
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs73016289
rs73016289 		1 158618356 intron variant G/A snv 0.28
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs857721
rs857721 		1 158642758 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs857725
rs857725 		1 158638145 stop gained T/A;G snv 4.0E-06; 0.28
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009