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rs397508791

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397508791(A;A)
Make rs397508791(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535412
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508791
dbSNP (classic)rs397508791
ClinGenrs397508791
ebirs397508791
HLIrs397508791
Exacrs397508791
Gnomadrs397508791
Varsomers397508791
LitVarrs397508791
Maprs397508791
PheGenIrs397508791
Biobankrs397508791
1000 genomesrs397508791
hgdprs397508791
ensemblrs397508791
geneviewrs397508791
scholarrs397508791
googlers397508791
pharmgkbrs397508791
gwascentralrs397508791
openSNPrs397508791
23andMers397508791
SNPshotrs397508791
SNPdbers397508791
MSV3drs397508791
GWAS Ctlgrs397508791
Max Magnitude0
ClinVar
Risk rs397508791(A;A) rs397508791(C;C)
Alt rs397508791(A;A) rs397508791(C;C)
Reference Rs397508791(G;G)
Significance Pathogenic
Disease Cystic fibrosis Hereditary pancreatitis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.117175466G>A; NC_000007.13:g.117175466G>C
CLNSRC ClinVar
CLNACC RCV000047246.3, RCV000347077.1, RCV000047247.3,