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rs180177320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCCC;CCCC) 0 common in clinvar
Make rs180177320(-;-)
Make rs180177320(-;CCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position37424837
GeneGRHPR
is asnp
is mentioned by
dbSNPrs180177320
dbSNP (old)rs180177320
ClinGenrs180177320
ebirs180177320
HLIrs180177320
Exacrs180177320
Gnomadrs180177320
Varsomers180177320
Maprs180177320
PheGenIrs180177320
Biobankrs180177320
1000 genomesrs180177320
hgdprs180177320
ensemblrs180177320
gopubmedrs180177320
geneviewrs180177320
scholarrs180177320
googlers180177320
pharmgkbrs180177320
gwascentralrs180177320
openSNPrs180177320
23andMers180177320
23andMe allrs180177320
SNP Nexus

SNPshotrs180177320
SNPdbers180177320
MSV3drs180177320
GWAS Ctlgrs180177320
Max Magnitude0
ClinVar
Risk rs180177320(-;-)
Alt rs180177320(-;-)
Reference Rs180177320(CCCC;CCCC)
Significance Pathogenic
Disease Primary hyperoxaluria
Variation info
Gene GRHPR
CLNDBN Primary hyperoxaluria, type II
Reversed 0
HGVS NC_000009.11:g.37424834_37424837delCCCC
CLNSRC
CLNACC RCV000186453.1,