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rs181008242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs181008242(G;G)
Make rs181008242(G;T)
ReferenceGRCh38.p7 38.3/149
Chromosome7
Position117479283
GeneCFTR
is asnp
is mentioned by
dbSNPrs181008242
dbSNP (old)rs181008242
ClinGenrs181008242
ebirs181008242
HLIrs181008242
Exacrs181008242
Gnomadrs181008242
Varsomers181008242
Maprs181008242
PheGenIrs181008242
Biobankrs181008242
1000 genomesrs181008242
hgdprs181008242
ensemblrs181008242
gopubmedrs181008242
geneviewrs181008242
scholarrs181008242
googlers181008242
pharmgkbrs181008242
gwascentralrs181008242
openSNPrs181008242
23andMers181008242
23andMe allrs181008242
SNPshotrs181008242
SNPdbers181008242
MSV3drs181008242
GWAS Ctlgrs181008242
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs181008242(G;G)
Alt rs181008242(G;G)
Reference Rs181008242(T;T)
Significance Probable-non-pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117119337T>G
CLNSRC
CLNACC RCV000043698.4,