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rs75541969

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 3 cystic fibrosis carrier
(G;G) 0 common in clinvar


Make rs75541969(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117614699
GeneCFTR
is asnp
is mentioned by
dbSNPrs75541969
ebirs75541969
HLIrs75541969
Exacrs75541969
Varsomers75541969
Maprs75541969
PheGenIrs75541969
hapmaprs75541969
1000 genomesrs75541969
hgdprs75541969
ensemblrs75541969
gopubmedrs75541969
geneviewrs75541969
scholarrs75541969
googlers75541969
pharmgkbrs75541969
gwascentralrs75541969
openSNPrs75541969
23andMers75541969
23andMe allrs75541969
SNP Nexus

SNPshotrs75541969
SNPdbers75541969
MSV3drs75541969
GWAS Ctlgrs75541969
Max Magnitude3

Cystic fibrosis; c.3454G>C, p.Asp1152His

named i5011913 and i5053840 by 23andMe

ClinVar
Risk rs75541969(C;C)
Alt rs75541969(C;C)
Reference rs75541969(G;G)
Significance Pathogenic
Disease Cystic fibrosis Bronchiectasis Congenital bilateral absence of the vas deferens
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Bronchiectasis Congenital bilateral absence of the vas deferens
Reversed 0
HGVS NC_000007.13:g.117254753G>C
CLNSRC ClinVar GTR LabCorp
CLNACC RCV000046895.4, RCV000176162.1, RCV000176163.1,