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rs1057518878

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518878(C;G)
Make rs1057518878(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position79599715
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs1057518878
dbSNP (old)rs1057518878
ClinGenrs1057518878
ebirs1057518878
HLIrs1057518878
Exacrs1057518878
Gnomadrs1057518878
Varsomers1057518878
Maprs1057518878
PheGenIrs1057518878
Biobankrs1057518878
1000 genomesrs1057518878
hgdprs1057518878
ensemblrs1057518878
gopubmedrs1057518878
geneviewrs1057518878
scholarrs1057518878
googlers1057518878
pharmgkbrs1057518878
gwascentralrs1057518878
openSNPrs1057518878
23andMers1057518878
23andMe allrs1057518878
SNPshotrs1057518878
SNPdbers1057518878
MSV3drs1057518878
GWAS Ctlgrs1057518878
Max Magnitude0
ClinVar
Risk rs1057518878(G;G)
Alt rs1057518878(G;G)
Reference Rs1057518878(C;C)
Significance Probable-Pathogenic
Disease Congenital cataract
Variation info
Gene MAF LOC101928230
CLNDBN Congenital cataract
Reversed 1
HGVS NC_000016.9:g.79633612G>C
CLNSRC
CLNACC RCV000415117.1,