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rs730882208

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730882208(-;-)
Make rs730882208(-;GGGCGACGTCTTCAT)
Make rs730882208(GGGCGACGTCTTCAT;GGGCGACGTCTTCAT)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position1753572
GeneCTSD
is asnp
is mentioned by
dbSNPrs730882208
ebirs730882208
HLIrs730882208
Exacrs730882208
Varsomers730882208
Maprs730882208
PheGenIrs730882208
hapmaprs730882208
1000 genomesrs730882208
hgdprs730882208
ensemblrs730882208
gopubmedrs730882208
geneviewrs730882208
scholarrs730882208
googlers730882208
pharmgkbrs730882208
gwascentralrs730882208
openSNPrs730882208
23andMers730882208
23andMe allrs730882208
SNP Nexus

SNPshotrs730882208
SNPdbers730882208
MSV3drs730882208
GWAS Ctlgrs730882208
Max Magnitude0
ClinVar
Risk rs730882208(GGGCGACGTCTTCAT;GGGCGACGTCTTCAT)
Alt rs730882208(GGGCGACGTCTTCAT;GGGCGACGTCTTCAT)
Reference rs730882208(;)
Significance Probable-Pathogenic
Disease Exaggerated startle response Severe microlissencephaly
Variation info
Gene CTSD
CLNDBN Exaggerated startle response Severe microlissencephaly
Reversed 1
HGVS NC_000011.9:g.1774803_1774817dupATGAAGACGTCGCCC
CLNSRC King Faisal Specialist Hospital and Research Center
CLNACC RCV000162114.1,