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rs76649725

From SNPedia

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


Make rs76649725(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642484
GeneCFTR
is asnp
is mentioned by
dbSNPrs76649725
ebirs76649725
HLIrs76649725
Exacrs76649725
Varsomers76649725
Maprs76649725
PheGenIrs76649725
hapmaprs76649725
1000 genomesrs76649725
hgdprs76649725
ensemblrs76649725
gopubmedrs76649725
geneviewrs76649725
scholarrs76649725
googlers76649725
pharmgkbrs76649725
gwascentralrs76649725
openSNPrs76649725
23andMers76649725
23andMe allrs76649725
SNP Nexus

SNPshotrs76649725
SNPdbers76649725
MSV3drs76649725
GWAS Ctlgrs76649725
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.3764C>A, p.Ser1255Ter

OMIM602421
Desc
Variant0021
Relatedalso
ClinVar
Risk rs76649725(A,T;A,T)
Alt rs76649725(A,T;A,T)
Reference rs76649725(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282538C>A; NC_000007.13:g.117282538C>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007545.4, RCV000046976.2,