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rs786201030

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786201030(A;C)
Make rs786201030(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome22
Position24322169
GeneSPECC1L, SPECC1L-ADORA2A
is asnp
is mentioned by
dbSNPrs786201030
ebirs786201030
HLIrs786201030
Exacrs786201030
Varsomers786201030
Maprs786201030
PheGenIrs786201030
hapmaprs786201030
1000 genomesrs786201030
hgdprs786201030
ensemblrs786201030
gopubmedrs786201030
geneviewrs786201030
scholarrs786201030
googlers786201030
pharmgkbrs786201030
gwascentralrs786201030
openSNPrs786201030
23andMers786201030
23andMe allrs786201030
SNP Nexus

SNPshotrs786201030
SNPdbers786201030
MSV3drs786201030
GWAS Ctlgrs786201030
Max Magnitude0
ClinVar
Risk rs786201030(C;C)
Alt rs786201030(C;C)
Reference rs786201030(A;A)
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.24718137A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000162328.2,