rs200837270

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs200837270(A;G)

Make rs200837270(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

70831747

Gene

CD207

is a	snp
is	mentioned by
dbSNP	rs200837270
dbSNP (classic)	rs200837270
ClinGen	rs200837270
ebi	rs200837270
HLI	rs200837270
Exac	rs200837270
Gnomad	rs200837270
Varsome	rs200837270
LitVar	rs200837270
Map	rs200837270
PheGenI	rs200837270
Biobank	rs200837270
1000 genomes	rs200837270
hgdp	rs200837270
ensembl	rs200837270
geneview	rs200837270
scholar	rs200837270
google	rs200837270
pharmgkb	rs200837270
gwascentral	rs200837270
openSNP	rs200837270
23andMe	rs200837270
SNPshot	rs200837270
SNPdbe	rs200837270
MSV3d	rs200837270
GWAS Ctlg	rs200837270

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000005665.2,