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rs149790377

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 3 cystic fibrosis carrier
(T;T) 0 common in clinvar


Make rs149790377(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117603613
GeneCFTR
is asnp
is mentioned by
dbSNPrs149790377
ebirs149790377
HLIrs149790377
Exacrs149790377
Varsomers149790377
Maprs149790377
PheGenIrs149790377
hapmaprs149790377
1000 genomesrs149790377
hgdprs149790377
ensemblrs149790377
gopubmedrs149790377
geneviewrs149790377
scholarrs149790377
googlers149790377
pharmgkbrs149790377
gwascentralrs149790377
openSNPrs149790377
23andMers149790377
23andMe allrs149790377
SNP Nexus

SNPshotrs149790377
SNPdbers149790377
MSV3drs149790377
GWAS Ctlgrs149790377
Max Magnitude3

Cystic fibrosis; c.2739T>A, p.Tyr913Ter

named i5011647 by 23andMe

ClinVar
Risk rs149790377(A;A)
Alt rs149790377(A;A)
Reference rs149790377(T;T)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117243667T>A
CLNSRC CFTR2
CLNACC RCV000046670.3,