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rs587780432

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780432(G;T)
Make rs587780432(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position22982394
GeneRBBP8
is asnp
is mentioned by
dbSNPrs587780432
ebirs587780432
HLIrs587780432
Exacrs587780432
Varsomers587780432
Maprs587780432
PheGenIrs587780432
hapmaprs587780432
1000 genomesrs587780432
hgdprs587780432
ensemblrs587780432
gopubmedrs587780432
geneviewrs587780432
scholarrs587780432
googlers587780432
pharmgkbrs587780432
gwascentralrs587780432
openSNPrs587780432
23andMers587780432
23andMe allrs587780432
SNP Nexus

SNPshotrs587780432
SNPdbers587780432
MSV3drs587780432
GWAS Ctlgrs587780432
Max Magnitude0
ClinVar
Risk rs587780432(T;T)
Alt rs587780432(T;T)
Reference rs587780432(G;G)
Significance Pathogenic
Disease Seckel syndrome 2
Variation info
Gene RBBP8
CLNDBN Seckel syndrome 2
Reversed 0
HGVS NC_000018.9:g.20562357G>T
CLNSRC
CLNACC RCV000118129.1,