rs387906359

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs387906359(AT;AT)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117592589

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs387906359
dbSNP (classic)	rs387906359
ClinGen	rs387906359
ebi	rs387906359
HLI	rs387906359
Exac	rs387906359
Gnomad	rs387906359
Varsome	rs387906359
LitVar	rs387906359
Map	rs387906359
PheGenI	rs387906359
Biobank	rs387906359
1000 genomes	rs387906359
hgdp	rs387906359
ensembl	rs387906359
geneview	rs387906359
scholar	rs387906359
google	rs387906359
pharmgkb	rs387906359
gwascentral	rs387906359
openSNP	rs387906359
23andMe	rs387906359
SNPshot	rs387906359
SNPdbe	rs387906359
MSV3d	rs387906359
GWAS Ctlg	rs387906359

Merged from

Rs797045157

Max Magnitude

3

Cystic fibrosis; c.2422_2423insAT, p.Ser809Ilefs

named i5011551 by 23andMe

ClinVar
Risk	rs387906359(AT;AT)
Alt	rs387906359(AT;AT)
Reference	Rs387906359(-;-)
Significance	Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117232644_117232645dupAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000190991.2,