rs397508412

Orientation

plus

Stabilized

plus

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

Make rs397508412(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117509132

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508412
dbSNP (classic)	rs397508412
ClinGen	rs397508412
ebi	rs397508412
HLI	rs397508412
Exac	rs397508412
Gnomad	rs397508412
Varsome	rs397508412
LitVar	rs397508412
Map	rs397508412
PheGenI	rs397508412
Biobank	rs397508412
1000 genomes	rs397508412
hgdp	rs397508412
ensembl	rs397508412
geneview	rs397508412
scholar	rs397508412
google	rs397508412
pharmgkb	rs397508412
gwascentral	rs397508412
openSNP	rs397508412
23andMe	rs397508412
SNPshot	rs397508412
SNPdbe	rs397508412
MSV3d	rs397508412
GWAS Ctlg	rs397508412

Max Magnitude

3

ClinVar
Risk	rs397508412(A;A) rs397508412(C;C) rs397508412(G;G)
Alt	rs397508412(A;A) rs397508412(C;C) rs397508412(G;G)
Reference	Rs397508412(T;T)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117149186T>A; NC_000007.13:g.117149186T>C; NC_000007.13:g.117149186T>G
CLNSRC	ClinVar
CLNACC	RCV000046642.2, RCV000046643.2, RCV000046644.2,