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rs1800076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1800076(A;A)
Make rs1800076(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position117509093
GeneCFTR
is asnp
is mentioned by
dbSNPrs1800076
ebirs1800076
HLIrs1800076
Exacrs1800076
Varsomers1800076
Maprs1800076
PheGenIrs1800076
hapmaprs1800076
1000 genomesrs1800076
hgdprs1800076
ensemblrs1800076
gopubmedrs1800076
geneviewrs1800076
scholarrs1800076
googlers1800076
pharmgkbrs1800076
gwascentralrs1800076
openSNPrs1800076
23andMers1800076
23andMe allrs1800076
SNP Nexus

SNPshotrs1800076
SNPdbers1800076
MSV3drs1800076
GWAS Ctlgrs1800076
Max Magnitude0
ClinVar
Risk rs1800076(A,T;A,T)
Alt rs1800076(A,T;A,T)
Reference rs1800076(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided not specified Hereditary pancreatitis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided not specified Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.117149147G>A; NC_000007.13:g.117149147G>T
CLNSRC HGMD
CLNACC RCV000029494.1, RCV000078985.4, RCV000116686.2, RCV000119039.2, RCV000046562.2,