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rs77646904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;C) 3 Carrier for a cystic fibrosis allele
(C;C) 0 common in complete genomics
(G;G) 0 common in clinvar
(G;T) 3 Cystic Fibrosis carrier


Make rs77646904(A;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position117559629
GeneCFTR
is asnp
is mentioned by
dbSNPrs77646904
ebirs77646904
HLIrs77646904
Exacrs77646904
Varsomers77646904
Maprs77646904
PheGenIrs77646904
hapmaprs77646904
1000 genomesrs77646904
hgdprs77646904
ensemblrs77646904
gopubmedrs77646904
geneviewrs77646904
scholarrs77646904
googlers77646904
pharmgkbrs77646904
gwascentralrs77646904
openSNPrs77646904
23andMers77646904
23andMe allrs77646904
SNP Nexus

SNPshotrs77646904
SNPdbers77646904
MSV3drs77646904
GWAS Ctlgrs77646904
GMAF0.0009183
Max Magnitude3

Cystic fibrosis; c.1558G>T, p.Val520Phe

Note that this SNP is defined on the minus strand, so the G>T change reported in the literature is actually a C>A change for this SNP.

named i4000299, i5006075, i5011279 and i5011280 by 23andMe

OMIM602421
Desc
Variant0046
Relatedalso
ClinVar
Risk rs77646904(A,G,T;A,G,T)
Alt rs77646904(A,G,T;A,G,T)
Reference rs77646904(C;C)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 1
HGVS NC_000007.13:g.117199683G>A; NC_000007.13:g.117199683G>T
CLNSRC HGMD CFTR2 OMIM Allelic Variant
CLNACC RCV000046339.2, RCV000078979.4, RCV000007570.5,