rs1800111

Orientation

plus

Stabilized

plus

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)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117610521

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs1800111
dbSNP (classic)	rs1800111
ClinGen	rs1800111
ebi	rs1800111
HLI	rs1800111
Exac	rs1800111
Gnomad	rs1800111
Varsome	rs1800111
LitVar	rs1800111
Map	rs1800111
PheGenI	rs1800111
Biobank	rs1800111
1000 genomes	rs1800111
hgdp	rs1800111
ensembl	rs1800111
geneview	rs1800111
scholar	rs1800111
google	rs1800111
pharmgkb	rs1800111
gwascentral	rs1800111
openSNP	rs1800111
23andMe	rs1800111
SNPshot	rs1800111
SNPdbe	rs1800111
MSV3d	rs1800111
GWAS Ctlg	rs1800111

GMAF

0.001837

Max Magnitude

1.5

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.

OMIM	602421
Desc
Variant	0124
Related	also

ClinVar
Risk	rs1800111(C;C)
Alt	rs1800111(C;C)
Reference	Rs1800111(G;G)
Significance	Other
Disease	Pancreatitis Hypertrypsinemia Cystic fibrosis not provided Hereditary pancreatitis not specified
Variation	info
Gene	CFTR
CLNDBN	Pancreatitis, idiopathic, susceptibility to Hypertrypsinemia, neonatal, susceptibility to Cystic fibrosis not provided Hereditary pancreatitis not specified
Reversed	0
HGVS	NC_000007.13:g.117250575G>C
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007650.3, RCV000007651.3, RCV000046745.3, RCV000078991.3, RCV000175399.2, RCV000243402.1,

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