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rs76713772

From SNPedia

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


Make rs76713772(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117587738
GeneCFTR
is asnp
is mentioned by
dbSNPrs76713772
ebirs76713772
HLIrs76713772
Exacrs76713772
Varsomers76713772
Maprs76713772
PheGenIrs76713772
hapmaprs76713772
1000 genomesrs76713772
hgdprs76713772
ensemblrs76713772
gopubmedrs76713772
geneviewrs76713772
scholarrs76713772
googlers76713772
pharmgkbrs76713772
gwascentralrs76713772
openSNPrs76713772
23andMers76713772
23andMe allrs76713772
SNP Nexus

SNPshotrs76713772
SNPdbers76713772
MSV3drs76713772
GWAS Ctlgrs76713772
GMAF0.0004591
Max Magnitude3

rs76713772, also known as 1717-1G->A or 1585-1G>A, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.

In 23andMe, rs76713772 goes by several names: i4000317, i5011301 and i6056292.

OMIM602421
Desc
Variant0008
Relatedalso
ClinVar
Risk rs76713772(A;A)
Alt rs76713772(A;A)
Reference rs76713772(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.117227792G>A
CLNSRC CFTR2 Cystic Fibrosis Mutation Database OMIM Allelic Variant
CLNACC RCV000007532.8, RCV000224919.1,


[PMID 15948195] Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening.