rs786204591

Orientation

plus

Stabilized

plus

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

Make rs786204591(A;G)

Make rs786204591(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

8797883

Gene	PMM2, TMEM186

is a	snp
is	mentioned by
dbSNP	rs786204591
dbSNP (classic)	rs786204591
ClinGen	rs786204591
ebi	rs786204591
HLI	rs786204591
Exac	rs786204591
Gnomad	rs786204591
Varsome	rs786204591
LitVar	rs786204591
Map	rs786204591
PheGenI	rs786204591
Biobank	rs786204591
1000 genomes	rs786204591
hgdp	rs786204591
ensembl	rs786204591
geneview	rs786204591
scholar	rs786204591
google	rs786204591
pharmgkb	rs786204591
gwascentral	rs786204591
openSNP	rs786204591
23andMe	rs786204591
SNPshot	rs786204591
SNPdbe	rs786204591
MSV3d	rs786204591
GWAS Ctlg	rs786204591

Max Magnitude

0

ClinVar
Risk	rs786204591(G;G)
Alt	rs786204591(G;G)
Reference	Rs786204591(A;A)
Significance	Probable-Pathogenic
Disease	Carbohydrate-deficient glycoprotein syndrome type I
Variation	info
Gene	TMEM186 PMM2
CLNDBN	Carbohydrate-deficient glycoprotein syndrome type I
Reversed	0
HGVS	NC_000016.9:g.8891740A>G
CLNSRC
CLNACC	RCV000169340.1,