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rs11971167

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 carrier of cystic fibrosis allele
(G;G) 0 common in clinvar


Make rs11971167(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position117642528
GeneCFTR
is asnp
is mentioned by
dbSNPrs11971167
ebirs11971167
HLIrs11971167
Exacrs11971167
Varsomers11971167
Maprs11971167
PheGenIrs11971167
hapmaprs11971167
1000 genomesrs11971167
hgdprs11971167
ensemblrs11971167
gopubmedrs11971167
geneviewrs11971167
scholarrs11971167
googlers11971167
pharmgkbrs11971167
gwascentralrs11971167
openSNPrs11971167
23andMers11971167
23andMe allrs11971167
SNP Nexus

SNPshotrs11971167
SNPdbers11971167
MSV3drs11971167
GWAS Ctlgrs11971167
GMAF0.003673
Max Magnitude3

Cystic fibrosis; c.3808G>A, p.Asp1270Asn; of varying clinical consequence according to CFTR2 database

named i5012029 by 23andMe

? (A;A) (A;G) (G;G) 28
OMIM602421
DescVAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
Variant0060
Relatedalso


ClinVar
Risk rs11971167(A,T;A,T)
Alt rs11971167(A,T;A,T)
Reference rs11971167(G;G)
Significance Other
Disease Congenital bilateral absence of the vas deferens Cystic fibrosis Hereditary pancreatitis
Variation info
Gene CFTR
CLNDBN Congenital bilateral absence of the vas deferens Cystic fibrosis Hereditary pancreatitis
Reversed 0
HGVS NC_000007.13:g.117282582G>A; NC_000007.13:g.117282582G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007584.2, RCV000046985.3, RCV000176372.1, RCV000046986.2,



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