Disease: Cryptophthalmos syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882180
rs730882180
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0265233
Disease:
Cryptophthalmos syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs755750961
rs755750961
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0265233
Disease:
Cryptophthalmos syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs758310028
rs758310028
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
CUI: C0265233
Disease:
Cryptophthalmos syndrome 		0.010 GeneticVariation BEFREE Furthermore, considering that mutation (c.5914C>T: p.Glu1972Lys) in FREM2 causes FS, a severe systemic disorder, we also compared these two different missense mutations. 29688405 2018