RECQL, RecQ like helicase, 5965

N. diseases: 58; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565569139
rs1565569139
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		ACATGCTACATC 0.700 GeneticVariation CLINVAR
dbSNP: rs1565570957
rs1565570957
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs745659712
rs745659712
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs753723230
rs753723230
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR
dbSNP: rs777214281
rs777214281
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE Rare RECQL p.I156M allele was observed in breast cancer cases only (6/1,946, 0.3%, p = 0.043), whereas POLG p.L392V was two times more frequent in breast cancer cases (53/2,238, 2.4%) compared to controls (18/1,539, 1.2%, OR = 2.1, 95% CI 1.2-3.5, p = 0.010). 29341116 2018
dbSNP: rs777214281
rs777214281
Entrez Id: 5965
Gene Symbol: RECQL
RECQL
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE Rare RECQL p.I156M allele was observed in breast cancer cases only (6/1,946, 0.3%, p = 0.043), whereas POLG p.L392V was two times more frequent in breast cancer cases (53/2,238, 2.4%) compared to controls (18/1,539, 1.2%, OR = 2.1, 95% CI 1.2-3.5, p = 0.010). 29341116 2018