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rs267606675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606675(A;A)
Make rs267606675(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position31317679
GeneB3GALTL
is asnp
is mentioned by
dbSNPrs267606675
ebirs267606675
HLIrs267606675
Exacrs267606675
Varsomers267606675
Maprs267606675
PheGenIrs267606675
hapmaprs267606675
1000 genomesrs267606675
hgdprs267606675
ensemblrs267606675
gopubmedrs267606675
geneviewrs267606675
scholarrs267606675
googlers267606675
pharmgkbrs267606675
gwascentralrs267606675
openSNPrs267606675
23andMers267606675
23andMe allrs267606675
SNP Nexus

SNPshotrs267606675
SNPdbers267606675
MSV3drs267606675
GWAS Ctlgrs267606675
Max Magnitude0
ClinVar
Risk rs267606675(A;A)
Alt rs267606675(A;A)
Reference rs267606675(G;G)
Significance Pathogenic
Disease Peters plus syndrome
Variation info
Gene B3GLCT
CLNDBN Peters plus syndrome
Reversed 0
HGVS NC_000013.10:g.31891816G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001330.2,