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rs587776429

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776429(A;A)
Make rs587776429(A;C)
ReferenceGRCh38 38.1/142
Chromosome14
Position21525643
GeneSALL2
is asnp
is mentioned by
dbSNPrs587776429
ebirs587776429
HLIrs587776429
Exacrs587776429
Varsomers587776429
Maprs587776429
PheGenIrs587776429
hapmaprs587776429
1000 genomesrs587776429
hgdprs587776429
ensemblrs587776429
gopubmedrs587776429
geneviewrs587776429
scholarrs587776429
googlers587776429
pharmgkbrs587776429
gwascentralrs587776429
openSNPrs587776429
23andMers587776429
23andMe allrs587776429
SNP Nexus

SNPshotrs587776429
SNPdbers587776429
MSV3drs587776429
GWAS Ctlgrs587776429
Max Magnitude0
ClinVar
Risk rs587776429(A;A)
Alt rs587776429(A;A)
Reference rs587776429(C;C)
Significance Pathogenic
Disease Ocular coloboma
Variation info
Gene SALL2
CLNDBN Ocular coloboma, autosomal recessive
Reversed 0
HGVS NC_000014.8:g.21993777C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133468.2,