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rs373804633

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs373804633(C;T)
Make rs373804633(T;T)
ReferenceGRCh38 38.1/142
Chromosome18
Position22968855
GeneRBBP8
is asnp
is mentioned by
dbSNPrs373804633
ebirs373804633
HLIrs373804633
Exacrs373804633
Varsomers373804633
Maprs373804633
PheGenIrs373804633
hapmaprs373804633
1000 genomesrs373804633
hgdprs373804633
ensemblrs373804633
gopubmedrs373804633
geneviewrs373804633
scholarrs373804633
googlers373804633
pharmgkbrs373804633
gwascentralrs373804633
openSNPrs373804633
23andMers373804633
23andMe allrs373804633
SNP Nexus

SNPshotrs373804633
SNPdbers373804633
MSV3drs373804633
GWAS Ctlgrs373804633
Max Magnitude0
ClinVar
Risk rs373804633(T;T)
Alt rs373804633(T;T)
Reference rs373804633(C;C)
Significance Pathogenic
Disease Seckel syndrome 2
Variation info
Gene RBBP8
CLNDBN Seckel syndrome 2
Reversed 0
HGVS NC_000018.9:g.20548818C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000115043.3,