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rs368505753

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs368505753(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117509069
GeneCFTR
is asnp
is mentioned by
dbSNPrs368505753
ebirs368505753
HLIrs368505753
Exacrs368505753
Varsomers368505753
Maprs368505753
PheGenIrs368505753
hapmaprs368505753
1000 genomesrs368505753
hgdprs368505753
ensemblrs368505753
gopubmedrs368505753
geneviewrs368505753
scholarrs368505753
googlers368505753
pharmgkbrs368505753
gwascentralrs368505753
openSNPrs368505753
23andMers368505753
23andMe allrs368505753
SNP Nexus

SNPshotrs368505753
SNPdbers368505753
MSV3drs368505753
GWAS Ctlgrs368505753
Max Magnitude3

Cystic fibrosis; c.200C>T, Pro67Leu or P67L

named i5010743 by 23andMe

ClinVar
Risk rs368505753(T;T)
Alt rs368505753(T;T)
Reference rs368505753(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149123C>T
CLNSRC CFTR2
CLNACC RCV000056357.4,