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rs727504486

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs727504486(-;-)
Make rs727504486(-;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position117548634
GeneCFTR
is asnp
is mentioned by
dbSNPrs727504486
ebirs727504486
HLIrs727504486
Exacrs727504486
Varsomers727504486
Maprs727504486
PheGenIrs727504486
hapmaprs727504486
1000 genomesrs727504486
hgdprs727504486
ensemblrs727504486
gopubmedrs727504486
geneviewrs727504486
scholarrs727504486
googlers727504486
pharmgkbrs727504486
gwascentralrs727504486
openSNPrs727504486
23andMers727504486
23andMe allrs727504486
SNP Nexus

SNPshotrs727504486
SNPdbers727504486
MSV3drs727504486
GWAS Ctlgrs727504486
Max Magnitude0
ClinVar
Risk rs727504486(;)
Alt rs727504486(;)
Reference rs727504486(TT;TT)
Significance Pathogenic
Disease not specified Cystic fibrosis Congenital bilateral absence of the vas deferens
Variation info
Gene CFTR
CLNDBN not specified Cystic fibrosis Congenital bilateral absence of the vas deferens
Reversed 0
HGVS NC_000007.13:g.117188688_117188689delTT
CLNSRC
CLNACC RCV000155619.2, RCV000173692.1, RCV000173693.1,