rs121908801

Cystic Fibrosis related

plus

Geno	Mag	Summary
(-;A)	3	Likely miscall by 23andMe; but if not, carrier of a cystic fibrosis allele
(A;A)	0	common in clinvar

Make rs121908801(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117530938

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908801
dbSNP (classic)	rs121908801
ClinGen	rs121908801
ebi	rs121908801
HLI	rs121908801
Exac	rs121908801
Gnomad	rs121908801
Varsome	rs121908801
LitVar	rs121908801
Map	rs121908801
PheGenI	rs121908801
Biobank	rs121908801
1000 genomes	rs121908801
hgdp	rs121908801
ensembl	rs121908801
geneview	rs121908801
scholar	rs121908801
google	rs121908801
pharmgkb	rs121908801
gwascentral	rs121908801
openSNP	rs121908801
23andMe	rs121908801
SNPshot	rs121908801
SNPdbe	rs121908801
MSV3d	rs121908801
GWAS Ctlg	rs121908801

Max Magnitude

3

Cystic fibrosis; c.313delA, Ile105Serfs

Note: the 23andMe SNP representing this variant, i5010812, appears to often be miscalled as heterozygous.

ClinVar
Risk	rs121908801(-;-)
Alt	rs121908801(-;-)
Reference	Rs121908801(A;A)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117170992delA
CLNSRC	CFTR2 Cystic Fibrosis Mutation Database
CLNACC	RCV000046792.3,

[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.