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: rs17534202
rs17534202 		1.000 0.120 1 203312047 downstream gene variant G/C snv 0.40
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 3 2016 2019
dbSNP: rs7606173
rs7606173
BCL11A
1.000 0.080 2 60498316 intron variant G/C;T snv 0.39
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 3 2016 2019
dbSNP: rs3768321
rs3768321
PABPC4 ; PABPC4-AS1
1.000 0.080 1 39570256 intron variant G/T snv 0.14
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2019
dbSNP: rs10011838
rs10011838 		1.000 0.080 4 152599127 intergenic variant G/A snv 0.42
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs112329286
rs112329286
SYNE2
1.000 0.080 14 63773159 intron variant -/ATTT delins 0.24
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs11585926
rs11585926
TRIM33
1.000 0.040 1 114431068 intron variant T/C snv 0.22
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs1169299
rs1169299
HNF1A
1.000 0.080 12 120991391 intron variant T/C snv 0.43
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs12136973
rs12136973
KIAA0040
1.000 0.080 1 175171183 intron variant T/C snv 0.22
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs12449852
rs12449852
CDK12
1.000 0.080 17 39475835 intron variant A/G snv 0.79
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs12764899
rs12764899
AS3MT ; BORCS7-ASMT
1.000 0.040 10 102875346 intron variant G/A snv 0.21
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs1647381
rs1647381 		1.000 0.040 15 56794001 intron variant C/G snv 0.12
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs17183295
rs17183295
MYO1D
1.000 17 32751254 intron variant C/T snv 0.14
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs2027605
rs2027605
BACH1
1.000 0.120 21 29354452 intron variant A/G snv 0.48
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2272783
rs2272783
FECH
1.000 18 57571588 synonymous variant A/G snv 0.12 6.3E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs28601761
rs28601761 		1.000 0.040 8 125487789 intron variant C/G snv 0.37
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2954021
rs2954021 		1.000 0.040 8 125469835 intron variant A/G snv 0.54
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs332388
rs332388
SLC25A26
1.000 0.080 3 66361431 intron variant T/C snv 0.55
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs34651
rs34651
TNPO1
1.000 0.040 5 72848178 non coding transcript exon variant C/T snv 0.94
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs3741380
rs3741380
EHBP1L1
1.000 0.040 11 65581592 missense variant G/A snv 0.48 0.48
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs428073
rs428073
TAOK3
1.000 0.080 12 118244946 missense variant C/G;T snv 0.72
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs4760
rs4760
PLAUR
1.000 0.080 19 43648948 missense variant A/G snv 0.12 0.11
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs4846913
rs4846913
GALNT2
1.000 0.120 1 230158968 intron variant C/A;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs59721556
rs59721556 		1.000 0.040 14 77646050 TF binding site variant G/A snv 0.19
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs603424
rs603424
PKD2L1
1.000 0.080 10 100315722 intron variant G/A snv 0.34
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs6914831
rs6914831
AHI1
1.000 0.080 6 135318506 3 prime UTR variant C/T snv 0.59 0.59
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019