SRP54, signal recognition particle 54, 6729

N. diseases: 96; N. variants: 4
Disease: SHWACHMAN-DIAMOND SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555354198
rs1555354198
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		A 0.700 CausalMutation CLINVAR Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 28972538 2017
dbSNP: rs1555354200
rs1555354200
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 28972538 2017
dbSNP: rs1555354750
rs1555354750
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		A 0.700 CausalMutation CLINVAR Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 28972538 2017