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rs75389940

From SNPedia

Cystic Fibrosis related
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier of a cystic fibrosis allele
(T;T) 0 common in complete genomics
Make rs75389940(C;C)
Make rs75389940(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117627753
GeneCFTR
is asnp
is mentioned by
dbSNPrs75389940
ebirs75389940
HLIrs75389940
Exacrs75389940
Varsomers75389940
Maprs75389940
PheGenIrs75389940
hapmaprs75389940
1000 genomesrs75389940
hgdprs75389940
ensemblrs75389940
gopubmedrs75389940
geneviewrs75389940
scholarrs75389940
googlers75389940
pharmgkbrs75389940
gwascentralrs75389940
openSNPrs75389940
23andMers75389940
23andMe allrs75389940
SNP Nexus

SNPshotrs75389940
SNPdbers75389940
MSV3drs75389940
GWAS Ctlgrs75389940
Max Magnitude3

Cystic fibrosis; c.3700A>G, p.Ile1234Val (note former minus strand orientation in dbSNP; later, appears to have been flipped to forward at some point by dbSNP); considered of unknown significance by CFTR2 database, but listed as pathogenic in ClinVar according to two submitters

named i5011976, i5006121 and i5053843 by 23andMe?

OMIM602421
Desc
Variant0110
Relatedalso
ClinVar
Risk rs75389940(C,G,T;C,G,T)
Alt rs75389940(C,G,T;C,G,T)
Reference rs75389940(A;A)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117267807A>G
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007636.3,