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rs121908802

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a cystic fibrosis allele
Make rs121908802(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117535263
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908802
ebirs121908802
HLIrs121908802
Exacrs121908802
Varsomers121908802
Maprs121908802
PheGenIrs121908802
hapmaprs121908802
1000 genomesrs121908802
hgdprs121908802
ensemblrs121908802
gopubmedrs121908802
geneviewrs121908802
scholarrs121908802
googlers121908802
pharmgkbrs121908802
gwascentralrs121908802
openSNPrs121908802
23andMers121908802
23andMe allrs121908802
SNP Nexus

SNPshotrs121908802
SNPdbers121908802
MSV3drs121908802
GWAS Ctlgrs121908802
Max Magnitude3

Cystic fibrosis; c.595C>T, His199Tyr or H199Y

named i5010957 by 23andMe

ClinVar
Risk rs121908802(T;T)
Alt rs121908802(T;T)
Reference rs121908802(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117175317C>T
CLNSRC CFTR2
CLNACC RCV000056399.3,