rs387906261

Orientation

minus

Stabilized

minus

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

Make rs387906261(A;T)

Make rs387906261(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

12665750

Gene	MAN2B1, WDR83

is a	snp
is	mentioned by
dbSNP	rs387906261
dbSNP (classic)	rs387906261
ClinGen	rs387906261
ebi	rs387906261
HLI	rs387906261
Exac	rs387906261
Gnomad	rs387906261
Varsome	rs387906261
LitVar	rs387906261
Map	rs387906261
PheGenI	rs387906261
Biobank	rs387906261
1000 genomes	rs387906261
hgdp	rs387906261
ensembl	rs387906261
geneview	rs387906261
scholar	rs387906261
google	rs387906261
pharmgkb	rs387906261
gwascentral	rs387906261
openSNP	rs387906261
23andMe	rs387906261
SNPshot	rs387906261
SNPdbe	rs387906261
MSV3d	rs387906261
GWAS Ctlg	rs387906261

Max Magnitude

0

ClinVar
Risk	rs387906261(C;C) rs387906261(T;T)
Alt	rs387906261(C;C) rs387906261(T;T)
Reference	Rs387906261(A;A)
Significance	Other
Disease	Deficiency of alpha-mannosidase
Variation	info
Gene	WDR83 MAN2B1
CLNDBN	Deficiency of alpha-mannosidase
Reversed	1
HGVS	NC_000019.9:g.12776564T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001752.3,