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rs397508492

From SNPedia

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Geno Mag Summary
(AGTGAT;AGTGAT) 0 common in clinvar
Make rs397508492(-;-)
Make rs397508492(-;AGTGAT)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position117610593
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508492
ebirs397508492
HLIrs397508492
Exacrs397508492
Varsomers397508492
Maprs397508492
PheGenIrs397508492
hapmaprs397508492
1000 genomesrs397508492
hgdprs397508492
ensemblrs397508492
gopubmedrs397508492
geneviewrs397508492
scholarrs397508492
googlers397508492
pharmgkbrs397508492
gwascentralrs397508492
openSNPrs397508492
23andMers397508492
23andMe allrs397508492
SNP Nexus

SNPshotrs397508492
SNPdbers397508492
MSV3drs397508492
GWAS Ctlgrs397508492
Max Magnitude0
ClinVar
Risk rs397508492(;)
Alt rs397508492(;)
Reference rs397508492(AGTGAT;AGTGAT)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117250651_117250656delATAGTG
CLNSRC HGMD
CLNACC RCV000046775.5, RCV000078992.3,