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: rs1047912
rs1047912
DIP2B
12 50745079 3 prime UTR variant C/T snv 0.21
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs35173156
rs35173156
DIP2B
12 50574547 intron variant T/C snv 0.12
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs71086466
rs71086466
DIP2B
12 50657224 intron variant AAAAAAAAAA/-;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA;AAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAA delins 0.36
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016