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rs397508630

From SNPedia

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


Make rs397508630(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117652851
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508630
ebirs397508630
HLIrs397508630
Exacrs397508630
Varsomers397508630
Maprs397508630
PheGenIrs397508630
hapmaprs397508630
1000 genomesrs397508630
hgdprs397508630
ensemblrs397508630
gopubmedrs397508630
geneviewrs397508630
scholarrs397508630
googlers397508630
pharmgkbrs397508630
gwascentralrs397508630
openSNPrs397508630
23andMers397508630
23andMe allrs397508630
SNP Nexus

SNPshotrs397508630
SNPdbers397508630
MSV3drs397508630
GWAS Ctlgrs397508630
Max Magnitude3

Cystic fibrosis; c.3883delA, p.Ile1295Phefs


ClinVar
Risk rs397508630(;)
Alt rs397508630(;)
Reference rs397508630(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292905delA
CLNSRC CFTR2
CLNACC RCV000047016.3,