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rs786205250

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205250(-;-)
Make rs786205250(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position165764895
GeneGALNT3
is asnp
is mentioned by
dbSNPrs786205250
ebirs786205250
HLIrs786205250
Exacrs786205250
Varsomers786205250
Maprs786205250
PheGenIrs786205250
hapmaprs786205250
1000 genomesrs786205250
hgdprs786205250
ensemblrs786205250
gopubmedrs786205250
geneviewrs786205250
scholarrs786205250
googlers786205250
pharmgkbrs786205250
gwascentralrs786205250
openSNPrs786205250
23andMers786205250
23andMe allrs786205250
SNP Nexus

SNPshotrs786205250
SNPdbers786205250
MSV3drs786205250
GWAS Ctlgrs786205250
Max Magnitude0
ClinVar
Risk rs786205250(;)
Alt rs786205250(;)
Reference rs786205250(C;C)
Significance Pathogenic
Disease Tumoral calcinosis
Variation info
Gene GALNT3
CLNDBN Tumoral calcinosis, familial, hyperphosphatemic
Reversed 1
HGVS NC_000002.11:g.166621405delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000008245.4,