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rs113993958

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 4 Cystic Fibrosis (D110H); milder form
(C;G) 3 carrier for milder form of cystic fibrosis
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome7
Position117530953
GeneCFTR
is asnp
is mentioned by
dbSNPrs113993958
ebirs113993958
HLIrs113993958
Exacrs113993958
Varsomers113993958
Maprs113993958
PheGenIrs113993958
hapmaprs113993958
1000 genomesrs113993958
hgdprs113993958
ensemblrs113993958
gopubmedrs113993958
geneviewrs113993958
scholarrs113993958
googlers113993958
pharmgkbrs113993958
gwascentralrs113993958
openSNPrs113993958
23andMers113993958
23andMe allrs113993958
SNP Nexus

SNPshotrs113993958
SNPdbers113993958
MSV3drs113993958
GWAS Ctlgrs113993958
Max Magnitude4
rs113993958, also known as c.328G>C, is a SNP in the CFTR gene potentially leading to a mild form of cystic fibrosis known as Asp110His or D110H (OMIM 602041.0004). The common form is rs113993958(G), whereas the form leading (when present in two copies) to cystic fibrosis is rs113993958(C).

named i5006048 by 23andMe, although their SNPs i5010823, i5010825 and i5010826 are also at the same nucleotide position

OMIM602421
Desc
Variant0004
Relatedalso
ClinVar
Risk rs113993958(C,T;C,T)
Alt rs113993958(C,T;C,T)
Reference rs113993958(G;G)
Significance Pathogenic
Disease Cystic fibrosis not provided
Variation info
Gene CFTR
CLNDBN Cystic fibrosis not provided
Reversed 0
HGVS NC_000007.13:g.117171007G>C; NC_000007.13:g.117171007G>T
CLNSRC CFTR2 OMIM Allelic Variant
CLNACC RCV000007527.6, RCV000058930.1, RCV000046852.2,