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rs75115087

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 carrier of a cystic fibrosis allele
Make rs75115087(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117592295
GeneCFTR
is asnp
is mentioned by
dbSNPrs75115087
ebirs75115087
HLIrs75115087
Exacrs75115087
Varsomers75115087
Maprs75115087
PheGenIrs75115087
hapmaprs75115087
1000 genomesrs75115087
hgdprs75115087
ensemblrs75115087
gopubmedrs75115087
geneviewrs75115087
scholarrs75115087
googlers75115087
pharmgkbrs75115087
gwascentralrs75115087
openSNPrs75115087
23andMers75115087
23andMe allrs75115087
SNP Nexus

SNPshotrs75115087
SNPdbers75115087
MSV3drs75115087
GWAS Ctlgrs75115087
Max Magnitude3

Cystic fibrosis; c.2128A>T, p.Lys710Ter

named i5006112 and i5053833 by 23andMe

OMIM602421
Desc
Variant0098
Relatedalso
ClinVar
Risk rs75115087(T;T)
Alt rs75115087(T;T)
Reference rs75115087(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117232349A>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007624.5,