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rs1057516387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516387(-;TC)
Make rs1057516387(TC;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position117540119
GeneCFTR
is asnp
is mentioned by
dbSNPrs1057516387
dbSNP (classic)rs1057516387
ClinGenrs1057516387
ebirs1057516387
HLIrs1057516387
Exacrs1057516387
Gnomadrs1057516387
Varsomers1057516387
LitVarrs1057516387
Maprs1057516387
PheGenIrs1057516387
Biobankrs1057516387
1000 genomesrs1057516387
hgdprs1057516387
ensemblrs1057516387
geneviewrs1057516387
scholarrs1057516387
googlers1057516387
pharmgkbrs1057516387
gwascentralrs1057516387
openSNPrs1057516387
23andMers1057516387
23andMe allrs1057516387
SNPshotrs1057516387
SNPdbers1057516387
MSV3drs1057516387
GWAS Ctlgrs1057516387
Max Magnitude0
ClinVar
Risk rs1057516387(CT;CT)
Alt rs1057516387(CT;CT)
Reference Rs1057516387(-;-)
Significance Probable-Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117180172_117180173dupTC
CLNSRC
CLNACC RCV000410404.1,