rs793888506

Orientation

plus

Stabilized

plus

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

Make rs793888506(A;A)

Make rs793888506(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

55418167

Gene

TMEM165

is a	snp
is	mentioned by
dbSNP	rs793888506
dbSNP (classic)	rs793888506
ClinGen	rs793888506
ebi	rs793888506
HLI	rs793888506
Exac	rs793888506
Gnomad	rs793888506
Varsome	rs793888506
LitVar	rs793888506
Map	rs793888506
PheGenI	rs793888506
Biobank	rs793888506
1000 genomes	rs793888506
hgdp	rs793888506
ensembl	rs793888506
geneview	rs793888506
scholar	rs793888506
google	rs793888506
pharmgkb	rs793888506
gwascentral	rs793888506
openSNP	rs793888506
23andMe	rs793888506
SNPshot	rs793888506
SNPdbe	rs793888506
MSV3d	rs793888506
GWAS Ctlg	rs793888506

Max Magnitude

0

ClinVar
Risk	rs793888506(A;A)
Alt	rs793888506(A;A)
Reference	Rs793888506(G;G)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 2k
Variation	info
Gene	TMEM165
CLNDBN	Congenital disorder of glycosylation type 2k
Reversed	0
HGVS	NC_000004.11:g.56284334G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029179.3,