BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
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: rs1109748
rs1109748
11 61955173 synonymous variant C/A snv 0.21 0.11
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs1534842
rs1534842
11 61946118 upstream gene variant A/G snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs168990
rs168990
11 61956387 intron variant G/C snv 0.88
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs17156609
rs17156609
11 61964505 3 prime UTR variant G/A;C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs183176
rs183176
11 61954793 intron variant C/A snv 0.88
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195156
rs195156
11 61961591 non coding transcript exon variant C/T snv 0.81
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195157
rs195157
11 61960319 non coding transcript exon variant G/A snv 0.80
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195158
rs195158
11 61959399 non coding transcript exon variant G/A;C;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195160
rs195160
11 61958625 non coding transcript exon variant T/G snv 0.86
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195162
rs195162
11 61957042 intron variant C/G;T snv 0.91
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195163
rs195163
11 61956531 intron variant C/T snv 0.84
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195164
rs195164
11 61956084 intron variant A/G snv 0.88
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195165
rs195165
11 61955366 5 prime UTR variant T/A snv 0.88
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs195166
rs195166
11 61954112 intron variant T/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs2736594
rs2736594
11 61954740 intron variant G/T snv 0.11
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs2736596
rs2736596
11 61951554 intron variant G/A snv 5.4E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs2955683
rs2955683
11 61957703 intron variant G/A snv 0.84
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs2955684
rs2955684
11 61957702 intron variant T/C snv 0.84
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs741886
rs741886
11 61957315 intron variant G/T snv 6.0E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs972354
rs972354
11 61950135 5 prime UTR variant C/T snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012