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rs372227120

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 cystic fibrosis carrier
Make rs372227120(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117665565
GeneCFTR
is asnp
is mentioned by
dbSNPrs372227120
ebirs372227120
HLIrs372227120
Exacrs372227120
Varsomers372227120
Maprs372227120
PheGenIrs372227120
hapmaprs372227120
1000 genomesrs372227120
hgdprs372227120
ensemblrs372227120
gopubmedrs372227120
geneviewrs372227120
scholarrs372227120
googlers372227120
pharmgkbrs372227120
gwascentralrs372227120
openSNPrs372227120
23andMers372227120
23andMe allrs372227120
SNP Nexus

SNPshotrs372227120
SNPdbers372227120
MSV3drs372227120
GWAS Ctlgrs372227120
Max Magnitude3

Cystic fibrosis; c.4242+1G>T

named i5012169 by 23andMe

ClinVar
Risk rs372227120(A,T;A,T)
Alt rs372227120(A,T;A,T)
Reference rs372227120(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117305619G>A; NC_000007.13:g.117305619G>T
CLNSRC CFTR2
CLNACC RCV000047114.2, RCV000047115.4,