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rs397508510

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 carrier of a cystic fibrosis allele
Make rs397508510(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611601
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508510
ebirs397508510
HLIrs397508510
Exacrs397508510
Varsomers397508510
Maprs397508510
PheGenIrs397508510
hapmaprs397508510
1000 genomesrs397508510
hgdprs397508510
ensemblrs397508510
gopubmedrs397508510
geneviewrs397508510
scholarrs397508510
googlers397508510
pharmgkbrs397508510
gwascentralrs397508510
openSNPrs397508510
23andMers397508510
23andMe allrs397508510
SNP Nexus

SNPshotrs397508510
SNPdbers397508510
MSV3drs397508510
GWAS Ctlgrs397508510
Max Magnitude3

Cystic fibrosis; c.3160C>G, p.His1054Asp

named i5011800 by 23andMe

ClinVar
Risk rs397508510(G;G)
Alt rs397508510(G;G)
Reference rs397508510(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251655C>G
CLNSRC CFTR2
CLNACC RCV000046801.3,