Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs67162110
rs67162110
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4551623
Disease:
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs72656354
rs72656354
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4551623
Disease:
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs72659343
rs72659343
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4551623
Disease:
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs797044459
rs797044459
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C4551623
Disease:
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
AC 0.700 CausalMutation CLINVAR