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rs864309531

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864309531(G;T)
Make rs864309531(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position216423668
GeneSMARCAL1
is asnp
is mentioned by
dbSNPrs864309531
dbSNP (old)rs864309531
ClinGenrs864309531
ebirs864309531
HLIrs864309531
Exacrs864309531
Gnomadrs864309531
Varsomers864309531
Maprs864309531
PheGenIrs864309531
Biobankrs864309531
1000 genomesrs864309531
hgdprs864309531
ensemblrs864309531
gopubmedrs864309531
geneviewrs864309531
scholarrs864309531
googlers864309531
pharmgkbrs864309531
gwascentralrs864309531
openSNPrs864309531
23andMers864309531
23andMe allrs864309531
SNP Nexus

SNPshotrs864309531
SNPdbers864309531
MSV3drs864309531
GWAS Ctlgrs864309531
Max Magnitude0
ClinVar
Risk rs864309531(T;T)
Alt rs864309531(T;T)
Reference Rs864309531(G;G)
Significance Pathogenic
Disease Schimke immunoosseous dysplasia
Variation info
Gene SMARCAL1
CLNDBN Schimke immunoosseous dysplasia
Reversed 0
HGVS NC_000002.11:g.217288391G>T
CLNSRC
CLNACC RCV000202608.1,