rs200337193

Orientation

plus

Stabilized

plus

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

Make rs200337193(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

117509031

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs200337193
dbSNP (classic)	rs200337193
ClinGen	rs200337193
ebi	rs200337193
HLI	rs200337193
Exac	rs200337193
Gnomad	rs200337193
Varsome	rs200337193
LitVar	rs200337193
Map	rs200337193
PheGenI	rs200337193
Biobank	rs200337193
1000 genomes	rs200337193
hgdp	rs200337193
ensembl	rs200337193
geneview	rs200337193
scholar	rs200337193
google	rs200337193
pharmgkb	rs200337193
gwascentral	rs200337193
openSNP	rs200337193
23andMe	rs200337193
SNPshot	rs200337193
SNPdbe	rs200337193
MSV3d	rs200337193
GWAS Ctlg	rs200337193

Max Magnitude

3

ClinVar
Risk	rs200337193(A;A) rs200337193(T;T)
Alt	rs200337193(A;A) rs200337193(T;T)
Reference	Rs200337193(C;C)
Significance	Probable-Pathogenic
Disease	Cystic fibrosis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis
Reversed	0
HGVS	NC_000007.13:g.117149085C>A; NC_000007.13:g.117149085C>T
CLNSRC
CLNACC	RCV000046384.2, RCV000046385.3,