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rs397514485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514485(C;C)
Make rs397514485(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position66392676
GeneGRIP1
is asnp
is mentioned by
dbSNPrs397514485
ebirs397514485
HLIrs397514485
Exacrs397514485
Varsomers397514485
Maprs397514485
PheGenIrs397514485
hapmaprs397514485
1000 genomesrs397514485
hgdprs397514485
ensemblrs397514485
gopubmedrs397514485
geneviewrs397514485
scholarrs397514485
googlers397514485
pharmgkbrs397514485
gwascentralrs397514485
openSNPrs397514485
23andMers397514485
23andMe allrs397514485
SNP Nexus

SNPshotrs397514485
SNPdbers397514485
MSV3drs397514485
GWAS Ctlgrs397514485
Max Magnitude0
ClinVar
Risk rs397514485(C;C)
Alt rs397514485(C;C)
Reference rs397514485(G;G)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene GRIP1
CLNDBN Cryptophthalmos syndrome
Reversed 1
HGVS NC_000012.11:g.66786456C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030648.2,