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rs387907108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907108(A;C)
Make rs387907108(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position24322224
GeneSPECC1L, SPECC1L-ADORA2A
is asnp
is mentioned by
dbSNPrs387907108
ebirs387907108
HLIrs387907108
Exacrs387907108
Varsomers387907108
Maprs387907108
PheGenIrs387907108
hapmaprs387907108
1000 genomesrs387907108
hgdprs387907108
ensemblrs387907108
gopubmedrs387907108
geneviewrs387907108
scholarrs387907108
googlers387907108
pharmgkbrs387907108
gwascentralrs387907108
openSNPrs387907108
23andMers387907108
23andMe allrs387907108
SNP Nexus

SNPshotrs387907108
SNPdbers387907108
MSV3drs387907108
GWAS Ctlgrs387907108
Max Magnitude0
ClinVar
Risk rs387907108(C;C)
Alt rs387907108(C;C)
Reference rs387907108(A;A)
Significance Pathogenic
Disease Oculomaxillofacial dysostosis
Variation info
Gene SPECC1L-ADORA2A SPECC1L
CLNDBN Oculomaxillofacial dysostosis
Reversed 0
HGVS NC_000022.10:g.24718192A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024097.3,