rs121908752

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;T)	3	cystic fibrosis carrier
(T;T)	0	common in clinvar

Make rs121908752(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117535285

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908752
dbSNP (classic)	rs121908752
ClinGen	rs121908752
ebi	rs121908752
HLI	rs121908752
Exac	rs121908752
Gnomad	rs121908752
Varsome	rs121908752
LitVar	rs121908752
Map	rs121908752
PheGenI	rs121908752
Biobank	rs121908752
1000 genomes	rs121908752
hgdp	rs121908752
ensembl	rs121908752
geneview	rs121908752
scholar	rs121908752
google	rs121908752
pharmgkb	rs121908752
gwascentral	rs121908752
openSNP	rs121908752
23andMe	rs121908752
SNPshot	rs121908752
SNPdbe	rs121908752
MSV3d	rs121908752
GWAS Ctlg	rs121908752

Merged from

Rs121909030

Max Magnitude

3

Cystic fibrosis; c.617T>G, Leu206Trp or L206W

named i5006101 and i5010968 by 23andMe

OMIM	602421
Desc
Variant	0084
Related	also

ClinVar
Risk	rs121908752(G;G)
Alt	rs121908752(G;G)
Reference	Rs121908752(T;T)
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.117175339T>G
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007611.8, RCV000079011.4, RCV000397305.1,