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rs797045832

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCAGGTTGG;AGCAGGTTGG) 0 common in clinvar
Make rs797045832(-;-)
Make rs797045832(-;AGCAGGTTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position177292154
GeneNSD1
is asnp
is mentioned by
dbSNPrs797045832
ClinGenrs797045832
ebirs797045832
HLIrs797045832
Exacrs797045832
Varsomers797045832
Maprs797045832
PheGenIrs797045832
hapmaprs797045832
1000 genomesrs797045832
hgdprs797045832
ensemblrs797045832
gopubmedrs797045832
geneviewrs797045832
scholarrs797045832
googlers797045832
pharmgkbrs797045832
gwascentralrs797045832
openSNPrs797045832
23andMers797045832
23andMe allrs797045832
SNP Nexus

SNPshotrs797045832
SNPdbers797045832
MSV3drs797045832
GWAS Ctlgrs797045832
Max Magnitude0
ClinVar
Risk rs797045832(-;-)
Alt rs797045832(-;-)
Reference Rs797045832(AGCAGGTTGG;AGCAGGTTGG)
Significance Pathogenic
Disease Sotos syndrome 1
Variation info
Gene NSD1
CLNDBN Sotos syndrome 1
Reversed 0
HGVS NC_000005.9:g.176719155_176719164delAGCAGGTTGG
CLNSRC
CLNACC RCV000192321.1,