Source: CURATED

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: rs75002628
rs75002628
ALB
0.925 0.080 4 73412007 missense variant G/A;C snv 7.2E-05
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.820 1.000 4 1994 2019
dbSNP: rs77892378
rs77892378
ALB
1.000 0.080 4 73406760 missense variant T/C;G snv
CUI: C0342185
Disease: Hyperthyroxinemia, Familial Dysalbuminemic
Hyperthyroxinemia, Familial Dysalbuminemic 		0.800 1.000 4 1994 1998
dbSNP: rs77238412
rs77238412
ALB
4 73408735 stop gained C/G;T snv 4.0E-06
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.700 1.000 3 1994 2005
dbSNP: rs74821926
rs74821926
ALB
1.000 0.160 4 73404398 missense variant G/A;C;T snv 1.2E-05; 8.0E-06
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		0.700 0
dbSNP: rs75353611
rs75353611
ALB
4 73404401 missense variant A/T snv
CUI: C3889611
Disease: ALBUMIN BLENHEIM PHENOTYPE
ALBUMIN BLENHEIM PHENOTYPE 		0.700 0
dbSNP: rs77335374
rs77335374
ALB
4 73411994 splice acceptor variant A/G;T snv
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.700 0
dbSNP: rs77408163
rs77408163
ALB
4 73404407 splice donor variant G/A snv 8.0E-06
CUI: C4015776
Disease: ANALBUMINEMIA BAGHDAD
ANALBUMINEMIA BAGHDAD 		0.700 0
dbSNP: rs77449454
rs77449454
ALB
4 73413444 frameshift variant -/A delins
CUI: C0878666
Disease: Analbuminemia
Analbuminemia 		0.700 0
dbSNP: rs79228041
rs79228041
ALB
4 73419634 missense variant G/A snv
CUI: C4015752
Disease: ALBUMIN B PHENOTYPE
ALBUMIN B PHENOTYPE 		0.700 0