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rs397508138

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 3 carrier of a cystic fibrosis allele
Make rs397508138(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position117540236
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508138
dbSNP (classic)rs397508138
ClinGenrs397508138
ebirs397508138
HLIrs397508138
Exacrs397508138
Gnomadrs397508138
Varsomers397508138
LitVarrs397508138
Maprs397508138
PheGenIrs397508138
Biobankrs397508138
1000 genomesrs397508138
hgdprs397508138
ensemblrs397508138
geneviewrs397508138
scholarrs397508138
googlers397508138
pharmgkbrs397508138
gwascentralrs397508138
openSNPrs397508138
23andMers397508138
SNPshotrs397508138
SNPdbers397508138
MSV3drs397508138
GWAS Ctlgrs397508138
Max Magnitude3
ClinVar
Risk rs397508138(G;G)
Alt rs397508138(G;G)
Reference Rs397508138(-;-)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180290_117180291insG
CLNSRC CFTR2
CLNACC RCV000046194.3,