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rs200337193

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200337193(C;T)
Make rs200337193(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position117509031
GeneCFTR
is asnp
is mentioned by
dbSNPrs200337193
ebirs200337193
HLIrs200337193
Exacrs200337193
Varsomers200337193
Maprs200337193
PheGenIrs200337193
hapmaprs200337193
1000 genomesrs200337193
hgdprs200337193
ensemblrs200337193
gopubmedrs200337193
geneviewrs200337193
scholarrs200337193
googlers200337193
pharmgkbrs200337193
gwascentralrs200337193
openSNPrs200337193
23andMers200337193
23andMe allrs200337193
SNP Nexus

SNPshotrs200337193
SNPdbers200337193
MSV3drs200337193
GWAS Ctlgrs200337193
Max Magnitude0
ClinVar
Risk rs200337193(A,T;A,T)
Alt rs200337193(A,T;A,T)
Reference rs200337193(C;C)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117149085C>A; NC_000007.13:g.117149085C>T
CLNSRC
CLNACC RCV000046384.2, RCV000046385.3,