rs387906360

Cystic Fibrosis related

Orientation

plus

Stabilized

plus

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

Make rs387906360(TC;TC)

Reference

GRCh38 38.1/141

Chromosome

7

Position

117540252

Gene

CFTR

is a	snp
is	mentioned by
dbSNP	rs387906360
dbSNP (classic)	rs387906360
ClinGen	rs387906360
ebi	rs387906360
HLI	rs387906360
Exac	rs387906360
Gnomad	rs387906360
Varsome	rs387906360
LitVar	rs387906360
Map	rs387906360
PheGenI	rs387906360
Biobank	rs387906360
1000 genomes	rs387906360
hgdp	rs387906360
ensembl	rs387906360
geneview	rs387906360
scholar	rs387906360
google	rs387906360
pharmgkb	rs387906360
gwascentral	rs387906360
openSNP	rs387906360
23andMe	rs387906360
SNPshot	rs387906360
SNPdbe	rs387906360
MSV3d	rs387906360
GWAS Ctlg	rs387906360

Max Magnitude

3

Cystic fibrosis; c.1022_1023insTC, Phe342Hisfs; also c.1021_1022dupTC

ClinVar
Risk	rs387906360(TC;TC)
Alt	rs387906360(TC;TC)
Reference	Rs387906360(-;-)
Significance	Pathogenic
Disease	Cystic fibrosis Hereditary pancreatitis
Variation	info
Gene	CFTR
CLNDBN	Cystic fibrosis Hereditary pancreatitis
Reversed	0
HGVS	NC_000007.13:g.117180305_117180306dupTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007554.6, RCV000305136.1,