rs387906927

Orientation

plus

Stabilized

plus

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

Make rs387906927(A;A)

Make rs387906927(A;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

5083682

Gene

ALG1

is a	snp
is	mentioned by
dbSNP	rs387906927
dbSNP (classic)	rs387906927
ClinGen	rs387906927
ebi	rs387906927
HLI	rs387906927
Exac	rs387906927
Gnomad	rs387906927
Varsome	rs387906927
LitVar	rs387906927
Map	rs387906927
PheGenI	rs387906927
Biobank	rs387906927
1000 genomes	rs387906927
hgdp	rs387906927
ensembl	rs387906927
geneview	rs387906927
scholar	rs387906927
google	rs387906927
pharmgkb	rs387906927
gwascentral	rs387906927
openSNP	rs387906927
23andMe	rs387906927
SNPshot	rs387906927
SNPdbe	rs387906927
MSV3d	rs387906927
GWAS Ctlg	rs387906927

Max Magnitude

0

ClinVar
Risk	rs387906927(A;A)
Alt	rs387906927(A;A)
Reference	Rs387906927(T;T)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1K
Variation	info
Gene	ALG1
CLNDBN	Congenital disorder of glycosylation type 1K
Reversed	0
HGVS	NC_000016.9:g.5133683T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023495.4,