Have questions? Visit https://www.reddit.com/r/SNPedia

rs1800111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 1.5 no longer considered to be cystic fibrosis carrier
(G;G) 0 common in complete genomics


Make rs1800111(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117610521
GeneCFTR
is asnp
is mentioned by
dbSNPrs1800111
ebirs1800111
HLIrs1800111
Exacrs1800111
Varsomers1800111
Maprs1800111
PheGenIrs1800111
hapmaprs1800111
1000 genomesrs1800111
hgdprs1800111
ensemblrs1800111
gopubmedrs1800111
geneviewrs1800111
scholarrs1800111
googlers1800111
pharmgkbrs1800111
gwascentralrs1800111
openSNPrs1800111
23andMers1800111
23andMe allrs1800111
SNP Nexus

SNPshotrs1800111
SNPdbers1800111
MSV3drs1800111
GWAS Ctlgrs1800111
GMAF0.001837
Max Magnitude1.5

In the 2012 version of the CFTR database, rs1800111(C) was considered to be causative for cystic fibrosis. However, in the July 2013 CFTR database, this was changed, and this mutation was determined to be non-causative.

OMIM602421
Desc
Variant0124
Relatedalso
ClinVar
Risk rs1800111(C;C)
Alt rs1800111(C;C)
Reference rs1800111(G;G)
Significance Other
Disease Pancreatitis Hypertrypsinemia Cystic fibrosis not provided Hereditary pancreatitis
Variation info
Gene CFTR
CLNDBN Pancreatitis, idiopathic, susceptibility to Hypertrypsinemia, neonatal, susceptibility to Cystic fibrosis not provided Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.117250575G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007650.2, RCV000007651.2, RCV000046745.2, RCV000078991.3, RCV000175399.1,


[PMID 18716917OA-icon.png] A novel computational and structural analysis of nsSNPs in CFTR gene.