rs80055610

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs80055610(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117587833

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs80055610
dbSNP (classic)	rs80055610
ClinGen	rs80055610
ebi	rs80055610
HLI	rs80055610
Exac	rs80055610
Gnomad	rs80055610
Varsome	rs80055610
LitVar	rs80055610
Map	rs80055610
PheGenI	rs80055610
Biobank	rs80055610
1000 genomes	rs80055610
hgdp	rs80055610
ensembl	rs80055610
geneview	rs80055610
scholar	rs80055610
google	rs80055610
pharmgkb	rs80055610
gwascentral	rs80055610
openSNP	rs80055610
23andMe	rs80055610
SNPshot	rs80055610
SNPdbe	rs80055610
MSV3d	rs80055610
GWAS Ctlg	rs80055610

Max Magnitude

3

Cystic fibrosis; c.1679G>C, p.Arg560Thr as well as c.1679G>A, p.Arg560Lys

named i4000307, i5011358 and i5011359 by 23andMe

OMIM	602421
Desc
Variant	0016
Related	also

OMIM	602421
Desc
Variant	0052
Related	also

ClinVar
Risk	rs80055610(A;A) rs80055610(C;C)
Alt	rs80055610(A;A) rs80055610(C;C)
Reference	Rs80055610(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.117227887G>A; NC_000007.13:g.117227887G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007576.5, RCV000007533.9, RCV000224789.1,