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rs780950819

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs780950819(-;GGGTGGG)
Make rs780950819(GGGTGGG;GGGTGGG)
ReferenceGRCh38.p7 38.3/149
Chromosome12
Position57763698
GeneCYP27B1
is asnp
is mentioned by
dbSNPrs780950819
dbSNP (classic)rs780950819
ClinGenrs780950819
ebirs780950819
HLIrs780950819
Exacrs780950819
Gnomadrs780950819
Varsomers780950819
LitVarrs780950819
Maprs780950819
PheGenIrs780950819
Biobankrs780950819
1000 genomesrs780950819
hgdprs780950819
ensemblrs780950819
geneviewrs780950819
scholarrs780950819
googlers780950819
pharmgkbrs780950819
gwascentralrs780950819
openSNPrs780950819
23andMers780950819
23andMe allrs780950819
SNPshotrs780950819
SNPdbers780950819
MSV3drs780950819
GWAS Ctlgrs780950819
Max Magnitude0
ClinVar
Risk rs780950819(GGGTGGG;GGGTGGG)
Alt rs780950819(GGGTGGG;GGGTGGG)
Reference Rs780950819(-;-)
Significance Pathogenic
Disease Vitamin D-dependent rickets not provided
Variation info
Gene CYP27B1
CLNDBN Vitamin D-dependent rickets, type 1 not provided
Reversed 0
HGVS NC_000012.11:g.58157482_58157488dupGGGTGGG
CLNSRC
CLNACC RCV000258015.1, RCV000271425.1,