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rs1800097

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800097(A;A)
Make rs1800097(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117590357
GeneCFTR
is asnp
is mentioned by
dbSNPrs1800097
dbSNP (old)rs1800097
ClinGenrs1800097
ebirs1800097
HLIrs1800097
Exacrs1800097
Gnomadrs1800097
Varsomers1800097
Maprs1800097
PheGenIrs1800097
Biobankrs1800097
1000 genomesrs1800097
hgdprs1800097
ensemblrs1800097
gopubmedrs1800097
geneviewrs1800097
scholarrs1800097
googlers1800097
pharmgkbrs1800097
gwascentralrs1800097
openSNPrs1800097
23andMers1800097
23andMe allrs1800097
SNPshotrs1800097
SNPdbers1800097
MSV3drs1800097
GWAS Ctlgrs1800097
Max Magnitude0
ClinVar
Risk rs1800097(A;A) rs1800097(C;C)
Alt rs1800097(A;A) rs1800097(C;C)
Reference Rs1800097(G;G)
Significance Probable-Pathogenic
Disease Cystic fibrosis not specified not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not specified not provided
Reversed 0
HGVS NC_000007.13:g.117230411G>A; NC_000007.13:g.117230411G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000029484.1, RCV000174482.1, RCV000046421.3, RCV000417570.1,