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rs77932196

From SNPedia

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


Make rs77932196(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540270
GeneCFTR
is asnp
is mentioned by
dbSNPrs77932196
ebirs77932196
HLIrs77932196
Exacrs77932196
Varsomers77932196
Maprs77932196
PheGenIrs77932196
hapmaprs77932196
1000 genomesrs77932196
hgdprs77932196
ensemblrs77932196
gopubmedrs77932196
geneviewrs77932196
scholarrs77932196
googlers77932196
pharmgkbrs77932196
gwascentralrs77932196
openSNPrs77932196
23andMers77932196
23andMe allrs77932196
SNP Nexus

SNPshotrs77932196
SNPdbers77932196
MSV3drs77932196
GWAS Ctlgrs77932196
Max Magnitude3

Cystic fibrosis; c.1040G>C, c.1040G>A, R347P, Arg347Pro, R347P/H

named i4000297 for the G>C change, i5011094 for the G>A change, and i5011095 or the G>T change by 23andMe

OMIM602421
Desc
Variant0006
Relatedalso
OMIM602421
Desc
Variant0067
Relatedalso
OMIM602421
Desc
Variant0078
Relatedalso
ClinVar
Risk rs77932196(A,C,T;A,C,T)
Alt rs77932196(A,C,T;A,C,T)
Reference rs77932196(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.117180324G>A; NC_000007.13:g.117180324G>C; NC_000007.13:g.117180324G>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007602.5, RCV000224726.1, RCV000007530.8, RCV000007591.3,


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