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rs75096551

From SNPedia

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


Make rs75096551(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117606754
GeneCFTR
is asnp
is mentioned by
dbSNPrs75096551
ebirs75096551
HLIrs75096551
Exacrs75096551
Varsomers75096551
Maprs75096551
PheGenIrs75096551
hapmaprs75096551
1000 genomesrs75096551
hgdprs75096551
ensemblrs75096551
gopubmedrs75096551
geneviewrs75096551
scholarrs75096551
googlers75096551
pharmgkbrs75096551
gwascentralrs75096551
openSNPrs75096551
23andMers75096551
23andMe allrs75096551
SNP Nexus

SNPshotrs75096551
SNPdbers75096551
MSV3drs75096551
GWAS Ctlgrs75096551
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.2988+1G>A

named i5011728, i6056297 and i4000321 by 23andMe

ClinVar
Risk rs75096551(A;A)
Alt rs75096551(A;A)
Reference rs75096551(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117246808G>A
CLNSRC CFTR2 HGMD OMIM Allelic Variant
CLNACC RCV000007645.9, RCV000078989.3,


[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

[PMID 19092437OA-icon.png] Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.