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

rs752914124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GGAGGTCCTTG;GGAGGTCCTTG) 0 common in clinvar
Make rs752914124(-;-)
Make rs752914124(-;GGAGGTCCTTG)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position80210679
GeneSGSH
is asnp
is mentioned by
dbSNPrs752914124
dbSNP (classic)rs752914124
ClinGenrs752914124
ebirs752914124
HLIrs752914124
Exacrs752914124
Gnomadrs752914124
Varsomers752914124
LitVarrs752914124
Maprs752914124
PheGenIrs752914124
Biobankrs752914124
1000 genomesrs752914124
hgdprs752914124
ensemblrs752914124
geneviewrs752914124
scholarrs752914124
googlers752914124
pharmgkbrs752914124
gwascentralrs752914124
openSNPrs752914124
23andMers752914124
23andMe allrs752914124
SNPshotrs752914124
SNPdbers752914124
MSV3drs752914124
GWAS Ctlgrs752914124
Max Magnitude0
ClinVar
Risk rs752914124(-;-)
Alt rs752914124(-;-)
Reference Rs752914124(GGAGGTCCTTG;GGAGGTCCTTG)
Significance Pathogenic
Disease Mucopolysaccharidosis not provided
Variation info
Gene SGSH
CLNDBN Mucopolysaccharidosis, MPS-III-A not provided
Reversed 0
HGVS NC_000017.10:g.78184478_78184488delGGAGGTCCTTG
CLNSRC
CLNACC RCV000295921.1, RCV000484018.1,