rs768021123

Orientation

plus

Stabilized

plus

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

Make rs768021123(-;-)

Make rs768021123(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

8797906

Gene	PMM2, TMEM186

is a	snp
is	mentioned by
dbSNP	rs768021123
dbSNP (classic)	rs768021123
ClinGen	rs768021123
ebi	rs768021123
HLI	rs768021123
Exac	rs768021123
Gnomad	rs768021123
Varsome	rs768021123
LitVar	rs768021123
Map	rs768021123
PheGenI	rs768021123
Biobank	rs768021123
1000 genomes	rs768021123
hgdp	rs768021123
ensembl	rs768021123
geneview	rs768021123
scholar	rs768021123
google	rs768021123
pharmgkb	rs768021123
gwascentral	rs768021123
openSNP	rs768021123
23andMe	rs768021123
SNPshot	rs768021123
SNPdbe	rs768021123
MSV3d	rs768021123
GWAS Ctlg	rs768021123

Max Magnitude

0

ClinVar
Risk	rs768021123(-;-)
Alt	rs768021123(-;-)
Reference	Rs768021123(C;C)
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.8891763delC
CLNSRC
CLNACC	RCV000169057.1,