rs121909042

Orientation

plus

Stabilized

plus

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

Make rs121909042(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117652875

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121909042
dbSNP (classic)	rs121909042
ClinGen	rs121909042
ebi	rs121909042
HLI	rs121909042
Exac	rs121909042
Gnomad	rs121909042
Varsome	rs121909042
LitVar	rs121909042
Map	rs121909042
PheGenI	rs121909042
Biobank	rs121909042
1000 genomes	rs121909042
hgdp	rs121909042
ensembl	rs121909042
geneview	rs121909042
scholar	rs121909042
google	rs121909042
pharmgkb	rs121909042
gwascentral	rs121909042
openSNP	rs121909042
23andMe	rs121909042
SNPshot	rs121909042
SNPdbe	rs121909042
MSV3d	rs121909042
GWAS Ctlg	rs121909042

Max Magnitude

3

OMIM	602421
Desc
Variant	0114
Related	also

ClinVar
Risk	rs121909042(C;C)
Alt	rs121909042(C;C)
Reference	Rs121909042(A;A)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117292929A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007639.3,