rs397508400

Orientation

plus

Stabilized

plus

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

Make rs397508400(-;-)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117595028

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs397508400
dbSNP (classic)	rs397508400
ClinGen	rs397508400
ebi	rs397508400
HLI	rs397508400
Exac	rs397508400
Gnomad	rs397508400
Varsome	rs397508400
LitVar	rs397508400
Map	rs397508400
PheGenI	rs397508400
Biobank	rs397508400
1000 genomes	rs397508400
hgdp	rs397508400
ensembl	rs397508400
geneview	rs397508400
scholar	rs397508400
google	rs397508400
pharmgkb	rs397508400
gwascentral	rs397508400
openSNP	rs397508400
23andMe	rs397508400
SNPshot	rs397508400
SNPdbe	rs397508400
MSV3d	rs397508400
GWAS Ctlg	rs397508400

Max Magnitude

3

c.2589_2599delAATTTGGTGCT (p.Ile864Serfs), CFTR gene, cystic fibrosis related

ClinVar
Risk	rs397508400(-;-)
Alt	rs397508400(-;-)
Reference	Rs397508400(GTGCTAATTTG;GTGCTAATTTG)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117235082_117235092delAATTTGGTGCT
CLNSRC	CFTR2
CLNACC	RCV000046624.3,