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rs1800098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 3 unaffected carrier of an allele associated with vas deferens condition?
(G;G) 0 common in clinvar


Make rs1800098(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position117590400
GeneCFTR
is asnp
is mentioned by
dbSNPrs1800098
ebirs1800098
HLIrs1800098
Exacrs1800098
Varsomers1800098
Maprs1800098
PheGenIrs1800098
hapmaprs1800098
1000 genomesrs1800098
hgdprs1800098
ensemblrs1800098
gopubmedrs1800098
geneviewrs1800098
scholarrs1800098
googlers1800098
pharmgkbrs1800098
gwascentralrs1800098
openSNPrs1800098
23andMers1800098
23andMe allrs1800098
SNP Nexus

SNPshotrs1800098
SNPdbers1800098
MSV3drs1800098
GWAS Ctlgrs1800098
GMAF0.003673
Max Magnitude3
OMIM602421
DescVAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
Variant0061
Relatedalso


ClinVar
Risk rs1800098(C,T;C,T)
Alt rs1800098(C,T;C,T)
Reference rs1800098(G;G)
Significance Pathogenic
Disease Congenital bilateral absence of the vas deferens Cystic fibrosis not provided not specified
Variation info
Gene CFTR
CLNDBN Congenital bilateral absence of the vas deferens Cystic fibrosis not provided not specified
Reversed 0
HGVS NC_000007.13:g.117230454G>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000007585.2, RCV000029486.4, RCV000078981.5, RCV000155472.2,



[PMID 18716917OA-icon.png] A novel computational and structural analysis of nsSNPs in CFTR gene.


[PMID 108758] Psychologic vulnerability in epileptic patients.


[PMID 1379210] Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.


[PMID 10653141] Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens.


[PMID 12127423] Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis.


[PMID 15705292] Molecular pathology of the CFTR locus in male infertility.


[PMID 15880796] Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.


GET Evidence
CFTR-G576A
aa_change Gly576Ala
aa_change_short G576A
impact pathogenic
qualified_impact High clinical importance, Likely pathogenic
overall_frequency 0.00474684
summary Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del.