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rs7503034

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 0.1 Benign (harmless) variant
(T;T) 0.1 Benign (harmless) variant
ReferenceGRCh38 38.1/141
Chromosome17
Position80210594
GeneSGSH
is asnp
is mentioned by
dbSNPrs7503034
dbSNP (old)rs7503034
ClinGenrs7503034
ebirs7503034
HLIrs7503034
Exacrs7503034
Gnomadrs7503034
Varsomers7503034
Maprs7503034
PheGenIrs7503034
Biobankrs7503034
1000 genomesrs7503034
hgdprs7503034
ensemblrs7503034
gopubmedrs7503034
geneviewrs7503034
scholarrs7503034
googlers7503034
pharmgkbrs7503034
gwascentralrs7503034
openSNPrs7503034
23andMers7503034
23andMe allrs7503034
SNPshotrs7503034
SNPdbers7503034
MSV3drs7503034
GWAS Ctlgrs7503034
GMAF0.3264
Max Magnitude0.1

Benign variant.

? (C;C) (C;T) (T;T) 28



ClinVar
Risk Rs7503034(T;T)
Alt Rs7503034(T;T)
Reference Rs7503034(C;C)
Significance Non-pathogenic
Disease not specified Sanfilippo syndrome
Variation info
Gene SGSH
CLNDBN not specified Sanfilippo syndrome
Reversed 0
HGVS NC_000017.10:g.78184393C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000078352.5, RCV000289567.1,