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rs115545701

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3.5 carrier of a cystic fibrosis allele
Make rs115545701(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position117509089
GeneCFTR
is asnp
is mentioned by
dbSNPrs115545701
ebirs115545701
HLIrs115545701
Exacrs115545701
Varsomers115545701
Maprs115545701
PheGenIrs115545701
hapmaprs115545701
1000 genomesrs115545701
hgdprs115545701
ensemblrs115545701
gopubmedrs115545701
geneviewrs115545701
scholarrs115545701
googlers115545701
pharmgkbrs115545701
gwascentralrs115545701
openSNPrs115545701
23andMers115545701
23andMe allrs115545701
SNP Nexus

SNPshotrs115545701
SNPdbers115545701
MSV3drs115545701
GWAS Ctlgrs115545701
Max Magnitude3.5
Cystic fibrosis; c.220C>T, Arg74Trp or R74W

CFTR2 indicates this CF mutation is of varying clinical consequence

named i5010751 by 23andMe

ClinVar
Risk rs115545701(T;T)
Alt rs115545701(T;T)
Reference rs115545701(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis Congenital bilateral absence of the vas deferens Hereditary pancreatitis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Congenital bilateral absence of the vas deferens Hereditary pancreatitis not provided
Reversed 0
HGVS NC_000007.13:g.117149143C>T
CLNSRC
CLNACC RCV000177071.1, RCV000177072.1, RCV000177073.1, RCV000224532.1,