rs1057516619

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1057516619(A;T)

Make rs1057516619(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

117536669

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs1057516619
dbSNP (classic)	rs1057516619
ClinGen	rs1057516619
ebi	rs1057516619
HLI	rs1057516619
Exac	rs1057516619
Gnomad	rs1057516619
Varsome	rs1057516619
LitVar	rs1057516619
Map	rs1057516619
PheGenI	rs1057516619
Biobank	rs1057516619
1000 genomes	rs1057516619
hgdp	rs1057516619
ensembl	rs1057516619
geneview	rs1057516619
scholar	rs1057516619
google	rs1057516619
pharmgkb	rs1057516619
gwascentral	rs1057516619
openSNP	rs1057516619
23andMe	rs1057516619
SNPshot	rs1057516619
SNPdbe	rs1057516619
MSV3d	rs1057516619
GWAS Ctlg	rs1057516619

Max Magnitude

0

ClinVar
Risk	rs1057516619(T;T)
Alt	rs1057516619(T;T)
Reference	Rs1057516619(A;A)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117176723A>T
CLNSRC
CLNACC	RCV000410831.1,