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rs397514486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGA;AAGA) 0 common in clinvar
Make rs397514486(-;-)
Make rs397514486(-;AAGA)
ReferenceGRCh38 38.1/141
Chromosome12
Position66455423
GeneGRIP1
is asnp
is mentioned by
dbSNPrs397514486
ebirs397514486
HLIrs397514486
Exacrs397514486
Varsomers397514486
Maprs397514486
PheGenIrs397514486
hapmaprs397514486
1000 genomesrs397514486
hgdprs397514486
ensemblrs397514486
gopubmedrs397514486
geneviewrs397514486
scholarrs397514486
googlers397514486
pharmgkbrs397514486
gwascentralrs397514486
openSNPrs397514486
23andMers397514486
23andMe allrs397514486
SNP Nexus

SNPshotrs397514486
SNPdbers397514486
MSV3drs397514486
GWAS Ctlgrs397514486
Max Magnitude0
ClinVar
Risk rs397514486(;)
Alt rs397514486(;)
Reference rs397514486(AAGA;AAGA)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene GRIP1
CLNDBN Cryptophthalmos syndrome
Reversed 1
HGVS NC_000012.11:g.66849203_66849206delTCTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000030649.2,