rs121908780

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGAAA;GAAATTCAATCCT)	3	cystic fibrosis carrier
(GAAATTCAATCCT;GAAATTCAATCCT)	0	common in clinvar

Make rs121908780(AGAAA;AGAAA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117592140

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908780
dbSNP (classic)	rs121908780
ClinGen	rs121908780
ebi	rs121908780
HLI	rs121908780
Exac	rs121908780
Gnomad	rs121908780
Varsome	rs121908780
LitVar	rs121908780
Map	rs121908780
PheGenI	rs121908780
Biobank	rs121908780
1000 genomes	rs121908780
hgdp	rs121908780
ensembl	rs121908780
geneview	rs121908780
scholar	rs121908780
google	rs121908780
pharmgkb	rs121908780
gwascentral	rs121908780
openSNP	rs121908780
23andMe	rs121908780
SNPshot	rs121908780
SNPdbe	rs121908780
MSV3d	rs121908780
GWAS Ctlg	rs121908780

Max Magnitude

3

ClinVar
Risk	rs121908780(AGAAA;AGAAA)
Alt	rs121908780(AGAAA;AGAAA)
Reference	Rs121908780(GAAATTCAATCCT;GAAATTCAATCCT)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117232194_117232206delGAAATTCAATCCTinsAGAAA
CLNSRC	CFTR2
CLNACC	RCV000046511.3,