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rs672601314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601314(A;A)
Make rs672601314(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position117652932
GeneCFTR
is asnp
is mentioned by
dbSNPrs672601314
dbSNP (classic)rs672601314
ClinGenrs672601314
ebirs672601314
HLIrs672601314
Exacrs672601314
Gnomadrs672601314
Varsomers672601314
LitVarrs672601314
Maprs672601314
PheGenIrs672601314
Biobankrs672601314
1000 genomesrs672601314
hgdprs672601314
ensemblrs672601314
geneviewrs672601314
scholarrs672601314
googlers672601314
pharmgkbrs672601314
gwascentralrs672601314
openSNPrs672601314
23andMers672601314
SNPshotrs672601314
SNPdbers672601314
MSV3drs672601314
GWAS Ctlgrs672601314
Max Magnitude0
ClinVar
Risk rs672601314(A;A) rs672601314(C;C)
Alt rs672601314(A;A) rs672601314(C;C)
Reference Rs672601314(G;G)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292986G>A; NC_000007.13:g.117292986G>C
CLNSRC
CLNACC RCV000149421.1, RCV000411114.1,