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rs786201031

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786201031(A;A)
Make rs786201031(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position24412690
GeneSPECC1L, SPECC1L-ADORA2A
is asnp
is mentioned by
dbSNPrs786201031
ebirs786201031
HLIrs786201031
Exacrs786201031
Varsomers786201031
Maprs786201031
PheGenIrs786201031
hapmaprs786201031
1000 genomesrs786201031
hgdprs786201031
ensemblrs786201031
gopubmedrs786201031
geneviewrs786201031
scholarrs786201031
googlers786201031
pharmgkbrs786201031
gwascentralrs786201031
openSNPrs786201031
23andMers786201031
23andMe allrs786201031
SNP Nexus

SNPshotrs786201031
SNPdbers786201031
MSV3drs786201031
GWAS Ctlgrs786201031
Max Magnitude0
ClinVar
Risk rs786201031(A;A)
Alt rs786201031(A;A)
Reference rs786201031(G;G)
Significance Pathogenic
Disease Opitz G/BBB syndrome
Variation info
Gene SPECC1L-ADORA2A SPECC1L
CLNDBN Opitz G/BBB syndrome
Reversed 0
HGVS NC_000022.10:g.24808658G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000162329.3,