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rs202179988

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs202179988(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611649
GeneCFTR
is asnp
is mentioned by
dbSNPrs202179988
ebirs202179988
HLIrs202179988
Exacrs202179988
Varsomers202179988
Maprs202179988
PheGenIrs202179988
hapmaprs202179988
1000 genomesrs202179988
hgdprs202179988
ensemblrs202179988
gopubmedrs202179988
geneviewrs202179988
scholarrs202179988
googlers202179988
pharmgkbrs202179988
gwascentralrs202179988
openSNPrs202179988
23andMers202179988
23andMe allrs202179988
SNP Nexus

SNPshotrs202179988
SNPdbers202179988
MSV3drs202179988
GWAS Ctlgrs202179988
GMAF0.0004591
Max Magnitude3

Cystic fibrosis; c.3208C>T, p.Arg1070Trp

named i5011826 by 23andMe

ClinVar
Risk rs202179988(T;T)
Alt rs202179988(T;T)
Reference rs202179988(C;C)
Significance Pathogenic
Disease Cystic fibrosis Congenital bilateral absence of the vas deferens
Variation info
Gene CFTR
CLNDBN Cystic fibrosis Congenital bilateral absence of the vas deferens
Reversed 0
HGVS NC_000007.13:g.117251703C>T
CLNSRC ClinVar
CLNACC RCV000046824.2, RCV000219441.1,