rs75096551

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs75096551(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117606754

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs75096551
dbSNP (classic)	rs75096551
ClinGen	rs75096551
ebi	rs75096551
HLI	rs75096551
Exac	rs75096551
Gnomad	rs75096551
Varsome	rs75096551
LitVar	rs75096551
Map	rs75096551
PheGenI	rs75096551
Biobank	rs75096551
1000 genomes	rs75096551
hgdp	rs75096551
ensembl	rs75096551
geneview	rs75096551
scholar	rs75096551
google	rs75096551
pharmgkb	rs75096551
gwascentral	rs75096551
openSNP	rs75096551
23andMe	rs75096551
SNPshot	rs75096551
SNPdbe	rs75096551
MSV3d	rs75096551
GWAS Ctlg	rs75096551

GMAF

0.0004591

Max Magnitude

3

Cystic fibrosis; c.2988+1G>A

named i5011728, i6056297 and i4000321 by 23andMe

ClinVar
Risk	rs75096551(A;A)
Alt	rs75096551(A;A)
Reference	Rs75096551(G;G)
Significance	Pathogenic
Disease	Cystic fibrosis not provided Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not provided Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117246808G>A
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000007645.10, RCV000078989.3, RCV000376072.1,

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

[PMID 19092437] Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.