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rs766750282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs766750282(-;G)
Make rs766750282(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position165761939
GeneGALNT3
is asnp
is mentioned by
dbSNPrs766750282
dbSNP (classic)rs766750282
ClinGenrs766750282
ebirs766750282
HLIrs766750282
Exacrs766750282
Gnomadrs766750282
Varsomers766750282
LitVarrs766750282
Maprs766750282
PheGenIrs766750282
Biobankrs766750282
1000 genomesrs766750282
hgdprs766750282
ensemblrs766750282
geneviewrs766750282
scholarrs766750282
googlers766750282
pharmgkbrs766750282
gwascentralrs766750282
openSNPrs766750282
23andMers766750282
SNPshotrs766750282
SNPdbers766750282
MSV3drs766750282
GWAS Ctlgrs766750282
Max Magnitude0
ClinVar
Risk rs766750282(G;G)
Alt rs766750282(G;G)
Reference Rs766750282(-;-)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 0
HGVS NC_000002.11:g.166618450dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008243.3,