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rs121908753

From SNPedia

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


Make rs121908753(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540285
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908753
ebirs121908753
HLIrs121908753
Exacrs121908753
Varsomers121908753
Maprs121908753
PheGenIrs121908753
hapmaprs121908753
1000 genomesrs121908753
hgdprs121908753
ensemblrs121908753
gopubmedrs121908753
geneviewrs121908753
scholarrs121908753
googlers121908753
pharmgkbrs121908753
gwascentralrs121908753
openSNPrs121908753
23andMers121908753
23andMe allrs121908753
SNP Nexus

SNPshotrs121908753
SNPdbers121908753
MSV3drs121908753
GWAS Ctlgrs121908753
Merged fromRs121909032
Max Magnitude3

Cystic fibrosis; c.1055G>A, Arg352Gln or R352Q

named i5006107 and i5011106 by 23andMe

OMIM602421
Desc
Variant0092
Relatedalso
ClinVar
Risk rs121908753(A;A)
Alt rs121908753(A;A)
Reference rs121908753(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180339G>A
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007619.5,