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rs1060503016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503016(A;A)
Make rs1060503016(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position23791814
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs1060503016
dbSNP (classic)rs1060503016
ClinGenrs1060503016
ebirs1060503016
HLIrs1060503016
Exacrs1060503016
Gnomadrs1060503016
Varsomers1060503016
LitVarrs1060503016
Maprs1060503016
PheGenIrs1060503016
Biobankrs1060503016
1000 genomesrs1060503016
hgdprs1060503016
ensemblrs1060503016
geneviewrs1060503016
scholarrs1060503016
googlers1060503016
pharmgkbrs1060503016
gwascentralrs1060503016
openSNPrs1060503016
23andMers1060503016
SNPshotrs1060503016
SNPdbers1060503016
MSV3drs1060503016
GWAS Ctlgrs1060503016
Max Magnitude0
ClinVar
Risk rs1060503016(A;A)
Alt rs1060503016(A;A)
Reference Rs1060503016(G;G)
Significance Pathogenic
Disease Rhabdoid tumor predisposition syndrome 1 Schwannomatosis
Variation info
Gene SMARCB1
CLNDBN Rhabdoid tumor predisposition syndrome 1 Schwannomatosis
Reversed 0
HGVS NC_000022.10:g.24134001G>A
CLNSRC
CLNACC RCV000458044.1,