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rs121908801

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 3 Likely miscall by 23andMe; but if not, carrier of a cystic fibrosis allele
(A;A) 0 common in clinvar


Make rs121908801(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117530938
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908801
ebirs121908801
HLIrs121908801
Exacrs121908801
Varsomers121908801
Maprs121908801
PheGenIrs121908801
hapmaprs121908801
1000 genomesrs121908801
hgdprs121908801
ensemblrs121908801
gopubmedrs121908801
geneviewrs121908801
scholarrs121908801
googlers121908801
pharmgkbrs121908801
gwascentralrs121908801
openSNPrs121908801
23andMers121908801
23andMe allrs121908801
SNP Nexus

SNPshotrs121908801
SNPdbers121908801
MSV3drs121908801
GWAS Ctlgrs121908801
Max Magnitude3

Cystic fibrosis; c.313delA, Ile105Serfs

Note: the 23andMe SNP representing this variant, i5010812, appears to often be miscalled as heterozygous.


ClinVar
Risk rs121908801(;)
Alt rs121908801(;)
Reference rs121908801(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117170992delA
CLNSRC CFTR2 Cystic Fibrosis Mutation Database
CLNACC RCV000046792.3,



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


[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.


[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.