rs121908769

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;TT)	3	carrier of a cystic fibrosis allele
(TT;TT)	0	common in clinvar
(TTT;TTT)	0	common in clinvar

Make rs121908769(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

117509131

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908769
dbSNP (classic)	rs121908769
ClinGen	rs121908769
ebi	rs121908769
HLI	rs121908769
Exac	rs121908769
Gnomad	rs121908769
Varsome	rs121908769
LitVar	rs121908769
Map	rs121908769
PheGenI	rs121908769
Biobank	rs121908769
1000 genomes	rs121908769
hgdp	rs121908769
ensembl	rs121908769
geneview	rs121908769
scholar	rs121908769
google	rs121908769
pharmgkb	rs121908769
gwascentral	rs121908769
openSNP	rs121908769
23andMe	rs121908769
SNPshot	rs121908769
SNPdbe	rs121908769
MSV3d	rs121908769
GWAS Ctlg	rs121908769

Max Magnitude

3

Cystic fibrosis; c.262_263delTT

named i4000313, i5010770, i5010772 and i5010773 by 23andMe

OMIM	602421
Desc
Variant	0128
Related	also

ClinVar
Risk	rs121908769(-;-) rs121908769(AA;AA)
Alt	rs121908769(-;-) rs121908769(AA;AA)
Reference	Rs121908769(TT;TT)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117149185_117149186delTT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007654.5,