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: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
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: rs121918284
rs121918284 		0.882 0.080 11 61955892 missense variant G/A snv 5.2E-04 3.3E-04
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2001 2001
dbSNP: rs148060787
rs148060787 		0.851 0.080 11 61962853 missense variant C/G;T snv 4.4E-04
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.010 1.000 1 2001 2001
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: rs1800009
rs1800009 		11 61962762 synonymous variant T/C snv 0.46 0.43
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1800995
rs1800995 		0.851 0.080 11 61955906 missense variant GC/AA mnv
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2001 2001
dbSNP: rs1800995
rs1800995 		0.851 0.080 11 61955906 missense variant GC/AA mnv
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142 		0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2001 2001
dbSNP: rs1805142
rs1805142 		0.851 0.080 11 61955825 stop gained G/C;T snv 2.7E-05
CUI: C1720452
Disease: Soft drusen
Soft drusen 		0.010 1.000 1 2001 2001
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