rs121908784

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;A)	3	cystic fibrosis carrier
(A;A)	0	common in clinvar

Make rs121908784(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117642464

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908784
dbSNP (classic)	rs121908784
ClinGen	rs121908784
ebi	rs121908784
HLI	rs121908784
Exac	rs121908784
Gnomad	rs121908784
Varsome	rs121908784
LitVar	rs121908784
Map	rs121908784
PheGenI	rs121908784
Biobank	rs121908784
1000 genomes	rs121908784
hgdp	rs121908784
ensembl	rs121908784
geneview	rs121908784
scholar	rs121908784
google	rs121908784
pharmgkb	rs121908784
gwascentral	rs121908784
openSNP	rs121908784
23andMe	rs121908784
SNPshot	rs121908784
SNPdbe	rs121908784
MSV3d	rs121908784
GWAS Ctlg	rs121908784

Max Magnitude

3

Cystic fibrosis; c.3744delA, p.Lys1250Argfs

named i4000323 and i5012003 by 23andMe

OMIM	602421
Desc
Variant	0127
Related	also

ClinVar
Risk	rs121908784(-;-) rs121908784(T;T)
Alt	rs121908784(-;-) rs121908784(T;T)
Reference	Rs121908784(A;A)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117282518delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007653.6,