Source: ALL

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: rs530424960
rs530424960
HBS1L
6 135028265 intron variant AAA/-;AA;AAAA;AAAAA delins
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs7775698
rs7775698
HBS1L
1.000 0.080 6 135097497 intron variant C/T snv 6.9E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs7776054
rs7776054
HBS1L
6 135097778 intron variant A/G snv 0.24
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs9399136
rs9399136
HBS1L
6 135081201 intron variant T/C snv 0.18
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019