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rs397508416

From SNPedia

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


Make rs397508416(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603531
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508416
ebirs397508416
HLIrs397508416
Exacrs397508416
Varsomers397508416
Maprs397508416
PheGenIrs397508416
hapmaprs397508416
1000 genomesrs397508416
hgdprs397508416
ensemblrs397508416
gopubmedrs397508416
geneviewrs397508416
scholarrs397508416
googlers397508416
pharmgkbrs397508416
gwascentralrs397508416
openSNPrs397508416
23andMers397508416
23andMe allrs397508416
SNP Nexus

SNPshotrs397508416
SNPdbers397508416
MSV3drs397508416
GWAS Ctlgrs397508416
Max Magnitude3

Cystic fibrosis; c.2658-1G>T

named i5011622 by 23andMe

ClinVar
Risk rs397508416(T;T)
Alt rs397508416(T;T)
Reference rs397508416(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243585G>C; NC_000007.13:g.117243585G>T
CLNSRC CFTR2
CLNACC RCV000190990.1, RCV000046650.2,