Disease: TRICHOHEPATOENTERIC SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875237
rs281875237
Entrez Id: 1589;6499
Gene Symbol: CYP21A2;SKIV2L
CYP21A2;SKIV2L
CUI: C3281289
Disease:
TRICHOHEPATOENTERIC SYNDROME 2 		0.800 GeneticVariation UNIPROT SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. 22444670 2012
dbSNP: rs281875237
rs281875237
Entrez Id: 1589;6499
Gene Symbol: CYP21A2;SKIV2L
CYP21A2;SKIV2L
CUI: C3281289
Disease:
TRICHOHEPATOENTERIC SYNDROME 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1562659544
rs1562659544
Entrez Id: 1589;6499
Gene Symbol: CYP21A2;SKIV2L
CYP21A2;SKIV2L
CUI: C3281289
Disease:
TRICHOHEPATOENTERIC SYNDROME 2 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs751026211
rs751026211
Entrez Id: 1589;6499
Gene Symbol: CYP21A2;SKIV2L
CYP21A2;SKIV2L
CUI: C3281289
Disease:
TRICHOHEPATOENTERIC SYNDROME 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs768503878
rs768503878
Entrez Id: 1589;6499
Gene Symbol: CYP21A2;SKIV2L
CYP21A2;SKIV2L
CUI: C3281289
Disease:
TRICHOHEPATOENTERIC SYNDROME 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs781763471
rs781763471
Entrez Id: 1589;6499
Gene Symbol: CYP21A2;SKIV2L
CYP21A2;SKIV2L
CUI: C3281289
Disease:
TRICHOHEPATOENTERIC SYNDROME 2 		G 0.700 CausalMutation CLINVAR