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rs397508400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AATTTGGTGCT) 3 carrier of a cystic fibrosis allele
(AATTTGGTGCT;AATTTGGTGCT) 0 common in clinvar


Make rs397508400(-;-)
ReferenceGRCh38 38.1/141
Chromosome7
Position117595028
GeneCFTR
is asnp
is mentioned by
dbSNPrs397508400
ClinGenrs397508400
ebirs397508400
HLIrs397508400
Exacrs397508400
Varsomers397508400
Maprs397508400
PheGenIrs397508400
hapmaprs397508400
1000 genomesrs397508400
hgdprs397508400
ensemblrs397508400
gopubmedrs397508400
geneviewrs397508400
scholarrs397508400
googlers397508400
pharmgkbrs397508400
gwascentralrs397508400
openSNPrs397508400
23andMers397508400
23andMe allrs397508400
SNP Nexus

SNPshotrs397508400
SNPdbers397508400
MSV3drs397508400
GWAS Ctlgrs397508400
Max Magnitude3
ClinVar
Risk
Alt
Reference Rs397508400(GTGCTAATTTG;GTGCTAATTTG)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117235082_117235092delAATTTGGTGCT
CLNSRC CFTR2
CLNACC RCV000046624.3,