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rs78194216

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 cystic fibrosis carrier
Make rs78194216(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117611637
GeneCFTR
is asnp
is mentioned by
dbSNPrs78194216
dbSNP (old)rs78194216
ClinGenrs78194216
ebirs78194216
HLIrs78194216
Exacrs78194216
Gnomadrs78194216
Varsomers78194216
Maprs78194216
PheGenIrs78194216
Biobankrs78194216
1000 genomesrs78194216
hgdprs78194216
ensemblrs78194216
gopubmedrs78194216
geneviewrs78194216
scholarrs78194216
googlers78194216
pharmgkbrs78194216
gwascentralrs78194216
openSNPrs78194216
23andMers78194216
23andMe allrs78194216
SNP Nexus

SNPshotrs78194216
SNPdbers78194216
MSV3drs78194216
GWAS Ctlgrs78194216
Max Magnitude3

Cystic fibrosis; c.3196C>T, p.Arg1066Cys

named i5006085, i5053836 and i6008913 by 23andMe

OMIM602421
Desc
Variant0058
Relatedalso
ClinVar
Risk rs78194216(A;A) rs78194216(T;T)
Alt rs78194216(A;A) rs78194216(T;T)
Reference Rs78194216(C;C)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117251691C>A; NC_000007.13:g.117251691C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000046813.2, RCV000007582.5,