Have questions? Visit https://www.reddit.com/r/SNPedia

rs200837270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs200837270(A;G)
Make rs200837270(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position70831747
GeneCD207
is asnp
is mentioned by
dbSNPrs200837270
ebirs200837270
HLIrs200837270
Exacrs200837270
Varsomers200837270
Maprs200837270
PheGenIrs200837270
hapmaprs200837270
1000 genomesrs200837270
hgdprs200837270
ensemblrs200837270
gopubmedrs200837270
geneviewrs200837270
scholarrs200837270
googlers200837270
pharmgkbrs200837270
gwascentralrs200837270
openSNPrs200837270
23andMers200837270
23andMe allrs200837270
SNP Nexus

SNPshotrs200837270
SNPdbers200837270
MSV3drs200837270
GWAS Ctlgrs200837270
Max Magnitude0
ClinVar
Risk rs200837270(G;G)
Alt rs200837270(G;G)
Reference rs200837270(A;A)
Significance Pathogenic
Disease Birbeck granule deficiency
Variation info
Gene CD207
CLNDBN Birbeck granule deficiency
Reversed 0
HGVS NC_000002.11:g.71058878A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005665.2,