rs77932196

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	carrier of a cystic fibrosis allele
(C;G)	3	Cystic Fibrosis carrier
(G;G)	0	common in clinvar

Make rs77932196(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117540270

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs77932196
dbSNP (classic)	rs77932196
ClinGen	rs77932196
ebi	rs77932196
HLI	rs77932196
Exac	rs77932196
Gnomad	rs77932196
Varsome	rs77932196
LitVar	rs77932196
Map	rs77932196
PheGenI	rs77932196
Biobank	rs77932196
1000 genomes	rs77932196
hgdp	rs77932196
ensembl	rs77932196
geneview	rs77932196
scholar	rs77932196
google	rs77932196
pharmgkb	rs77932196
gwascentral	rs77932196
openSNP	rs77932196
23andMe	rs77932196
SNPshot	rs77932196
SNPdbe	rs77932196
MSV3d	rs77932196
GWAS Ctlg	rs77932196

Max Magnitude

3

Cystic fibrosis; c.1040G>C, c.1040G>A, R347P, Arg347Pro, R347P/H

named i4000297 for the G>C change, i5011094 for the G>A change, and i5011095 or the G>T change by 23andMe

OMIM	602421
Desc
Variant	0006
Related	also

OMIM	602421
Desc
Variant	0067
Related	also

OMIM	602421
Desc
Variant	0078
Related	also

ClinVar
Risk	rs77932196(A;A) rs77932196(C;C) rs77932196(T;T)
Alt	rs77932196(A;A) rs77932196(C;C) rs77932196(T;T)
Reference	Rs77932196(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis not provided
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided
Reversed	0
HGVS	NC_000007.13:g.117180324G>A; NC_000007.13:g.117180324G>C; NC_000007.13:g.117180324G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007602.5, RCV000224726.1, RCV000007530.8, RCV000007591.4,

[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.