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rs1057517718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517718(A;G)
Make rs1057517718(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position1447498
GeneCLCN7
is asnp
is mentioned by
dbSNPrs1057517718
dbSNP (classic)rs1057517718
ClinGenrs1057517718
ebirs1057517718
HLIrs1057517718
Exacrs1057517718
Gnomadrs1057517718
Varsomers1057517718
LitVarrs1057517718
Maprs1057517718
PheGenIrs1057517718
Biobankrs1057517718
1000 genomesrs1057517718
hgdprs1057517718
ensemblrs1057517718
geneviewrs1057517718
scholarrs1057517718
googlers1057517718
pharmgkbrs1057517718
gwascentralrs1057517718
openSNPrs1057517718
23andMers1057517718
23andMe allrs1057517718
SNPshotrs1057517718
SNPdbers1057517718
MSV3drs1057517718
GWAS Ctlgrs1057517718
Max Magnitude0
ClinVar
Risk rs1057517718(G;G)
Alt rs1057517718(G;G)
Reference Rs1057517718(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene CLCN7
CLNDBN not provided
Reversed 1
HGVS NC_000016.9:g.1497499T>C
CLNSRC
CLNACC RCV000412760.1,