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rs864309489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864309489(-;-)
Make rs864309489(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position83857301
GeneRIPPLY2
is asnp
is mentioned by
dbSNPrs864309489
ClinGenrs864309489
ebirs864309489
HLIrs864309489
Exacrs864309489
Varsomers864309489
Maprs864309489
PheGenIrs864309489
hapmaprs864309489
1000 genomesrs864309489
hgdprs864309489
ensemblrs864309489
gopubmedrs864309489
geneviewrs864309489
scholarrs864309489
googlers864309489
pharmgkbrs864309489
gwascentralrs864309489
openSNPrs864309489
23andMers864309489
23andMe allrs864309489
SNP Nexus

SNPshotrs864309489
SNPdbers864309489
MSV3drs864309489
GWAS Ctlgrs864309489
Max Magnitude0
ClinVar
Risk rs864309489(-;-)
Alt rs864309489(-;-)
Reference Rs864309489(T;T)
Significance Probable-Pathogenic
Disease Klippel-Feil syndrome 2 not provided
Variation info
Gene RIPPLY2
CLNDBN Klippel-Feil syndrome 2, autosomal recessive not provided
Reversed 0
HGVS NC_000006.11:g.84567020delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000202450.1, RCV000207167.1,