rs121908782

plus

Geno	Mag	Summary
(ACCA;ACCA)	0	common in clinvar
(CAAC;CAAC)	0	common in clinvar
(I;I)	0	common genotype

Make rs121908782(-;-)

Make rs121908782(-;ACCA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117627588

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908782
dbSNP (classic)	rs121908782
ClinGen	rs121908782
ebi	rs121908782
HLI	rs121908782
Exac	rs121908782
Gnomad	rs121908782
Varsome	rs121908782
LitVar	rs121908782
Map	rs121908782
PheGenI	rs121908782
Biobank	rs121908782
1000 genomes	rs121908782
hgdp	rs121908782
ensembl	rs121908782
geneview	rs121908782
scholar	rs121908782
google	rs121908782
pharmgkb	rs121908782
gwascentral	rs121908782
openSNP	rs121908782
23andMe	rs121908782
SNPshot	rs121908782
SNPdbe	rs121908782
MSV3d	rs121908782
GWAS Ctlg	rs121908782

Max Magnitude

0

ClinVar
Risk	rs121908782(-;-) rs121908782(CCAA;CCAA)
Alt	rs121908782(-;-) rs121908782(CCAA;CCAA)
Reference	Rs121908782(ACCA;ACCA)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117267643_117267646delCCAA
CLNSRC	ClinVar
CLNACC	RCV000409738.2,

[PMID 7517264] Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).