Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060503017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAAGACCT;GAAGACCT) 0 common in clinvar
Make rs1060503017(-;-)
Make rs1060503017(-;GAAGACCT)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position23825398
GeneSMARCB1
is asnp
is mentioned by
dbSNPrs1060503017
dbSNP (old)rs1060503017
ClinGenrs1060503017
ebirs1060503017
HLIrs1060503017
Exacrs1060503017
Gnomadrs1060503017
Varsomers1060503017
LitVarrs1060503017
Maprs1060503017
PheGenIrs1060503017
Biobankrs1060503017
1000 genomesrs1060503017
hgdprs1060503017
ensemblrs1060503017
gopubmedrs1060503017
geneviewrs1060503017
scholarrs1060503017
googlers1060503017
pharmgkbrs1060503017
gwascentralrs1060503017
openSNPrs1060503017
23andMers1060503017
23andMe allrs1060503017
SNPshotrs1060503017
SNPdbers1060503017
MSV3drs1060503017
GWAS Ctlgrs1060503017
Max Magnitude0
ClinVar
Risk rs1060503017(-;-)
Alt rs1060503017(-;-)
Reference Rs1060503017(GAAGACCT;GAAGACCT)
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.24167585_24167592delGAAGACCT
CLNSRC
CLNACC RCV000464666.1,