Have questions? Visit https://www.reddit.com/r/SNPedia

rs371904655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs371904655(C;C)
Make rs371904655(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position31317565
GeneB3GLCT
is asnp
is mentioned by
dbSNPrs371904655
dbSNP (classic)rs371904655
ClinGenrs371904655
ebirs371904655
HLIrs371904655
Exacrs371904655
Gnomadrs371904655
Varsomers371904655
LitVarrs371904655
Maprs371904655
PheGenIrs371904655
Biobankrs371904655
1000 genomesrs371904655
hgdprs371904655
ensemblrs371904655
geneviewrs371904655
scholarrs371904655
googlers371904655
pharmgkbrs371904655
gwascentralrs371904655
openSNPrs371904655
23andMers371904655
SNPshotrs371904655
SNPdbers371904655
MSV3drs371904655
GWAS Ctlgrs371904655
Max Magnitude0
ClinVar
Risk rs371904655(A;A) rs371904655(C;C)
Alt rs371904655(A;A) rs371904655(C;C)
Reference Rs371904655(G;G)
Significance Pathogenic
Disease Peters plus syndrome
Variation info
Gene B3GLCT
CLNDBN Peters plus syndrome
Reversed 0
HGVS NC_000013.10:g.31891702G>A
CLNSRC
CLNACC RCV000174622.1,