rs139729994

Orientation

plus

Stabilized

plus

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

Make rs139729994(G;T)

Make rs139729994(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

117614713

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs139729994
dbSNP (classic)	rs139729994
ClinGen	rs139729994
ebi	rs139729994
HLI	rs139729994
Exac	rs139729994
Gnomad	rs139729994
Varsome	rs139729994
LitVar	rs139729994
Map	rs139729994
PheGenI	rs139729994
Biobank	rs139729994
1000 genomes	rs139729994
hgdp	rs139729994
ensembl	rs139729994
geneview	rs139729994
scholar	rs139729994
google	rs139729994
pharmgkb	rs139729994
gwascentral	rs139729994
openSNP	rs139729994
23andMe	rs139729994
SNPshot	rs139729994
SNPdbe	rs139729994
MSV3d	rs139729994
GWAS Ctlg	rs139729994

Max Magnitude

3

ClinVar
Risk	rs139729994(A;A) rs139729994(T;T)
Alt	rs139729994(A;A) rs139729994(T;T)
Reference	Rs139729994(G;G)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis not specified not provided
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis not specified not provided
Reversed	0
HGVS	NC_000007.13:g.117254767G>A
CLNSRC
CLNACC	RCV000046899.3, RCV000176164.1, RCV000428306.1,