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rs137852607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852607(A;A)
Make rs137852607(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position203225706
GeneCHIT1
is asnp
is mentioned by
dbSNPrs137852607
ebirs137852607
HLIrs137852607
Exacrs137852607
Varsomers137852607
Maprs137852607
PheGenIrs137852607
hapmaprs137852607
1000 genomesrs137852607
hgdprs137852607
ensemblrs137852607
gopubmedrs137852607
geneviewrs137852607
scholarrs137852607
googlers137852607
pharmgkbrs137852607
gwascentralrs137852607
openSNPrs137852607
23andMers137852607
23andMe allrs137852607
SNP Nexus

SNPshotrs137852607
SNPdbers137852607
MSV3drs137852607
GWAS Ctlgrs137852607
GMAF0.001377
Max Magnitude0
OMIM600031
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852607(A;A)
Alt rs137852607(A;A)
Reference rs137852607(G;G)
Significance Other
Disease Chitotriosidase deficiency
Variation info
Gene CHIT1
CLNDBN Chitotriosidase deficiency
Reversed 1
HGVS NC_000001.10:g.203194834C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010133.3,