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rs77010898

From SNPedia

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


Make rs77010898(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642566
GeneCFTR
is asnp
is mentioned by
dbSNPrs77010898
ebirs77010898
HLIrs77010898
Exacrs77010898
Varsomers77010898
Maprs77010898
PheGenIrs77010898
hapmaprs77010898
1000 genomesrs77010898
hgdprs77010898
ensemblrs77010898
gopubmedrs77010898
geneviewrs77010898
scholarrs77010898
googlers77010898
pharmgkbrs77010898
gwascentralrs77010898
openSNPrs77010898
23andMers77010898
23andMe allrs77010898
SNP Nexus

SNPshotrs77010898
SNPdbers77010898
MSV3drs77010898
GWAS Ctlgrs77010898
Max Magnitude3

rs77010898, also known as Trp1282X, W1282X, W1282* and 3846G>A, is a SNP in the CFTR gene considered pathogenic for cystic fibrosis.

In 23andMe, rs77010898 may be referred to by at least 3 other names: i4000309, i5012037, and i6056299.

OMIM602421
Desc
Variant0022
Relatedalso
ClinVar
Risk rs77010898(A,C;A,C)
Alt rs77010898(A,C;A,C)
Reference rs77010898(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117282620G>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007549.10,