rs121908767

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;ATAGTG)	3	Cystic Fibrosis carrier
(AGTGAT;AGTGAT)	0	common in clinvar
(ATAGTG;ATAGTG)	0	common in clinvar
(GATAGTG;GATAGTG)	0	common in clinvar

Make rs121908767(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

117610597

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs121908767
dbSNP (classic)	rs121908767
ClinGen	rs121908767
ebi	rs121908767
HLI	rs121908767
Exac	rs121908767
Gnomad	rs121908767
Varsome	rs121908767
LitVar	rs121908767
Map	rs121908767
PheGenI	rs121908767
Biobank	rs121908767
1000 genomes	rs121908767
hgdp	rs121908767
ensembl	rs121908767
geneview	rs121908767
scholar	rs121908767
google	rs121908767
pharmgkb	rs121908767
gwascentral	rs121908767
openSNP	rs121908767
23andMe	rs121908767
SNPshot	rs121908767
SNPdbe	rs121908767
MSV3d	rs121908767
GWAS Ctlg	rs121908767

Max Magnitude

3

Known as 3199del6 or NM_000492.3:c.3067_3072delATAGTG, rs121908767 is considered a (rare) pathogenic mutation for cystic fibrosis. [PMID 18456578]

Equivalent to rs397508492

FTDNA & MyHeritage name: VG07S50448

ClinVar
Risk	rs121908767(-;-) rs121908767(CACTAT;CACTAT)
Alt	rs121908767(-;-) rs121908767(CACTAT;CACTAT)
Reference	Rs121908767(ATAGTG;ATAGTG)
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.117250651_117250656delATAGTG
CLNSRC	HGMD
CLNACC	RCV000046775.6, RCV000078992.3, RCV000312394.1,