rs1057516943

Orientation

plus

Stabilized

plus

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

Make rs1057516943(A;A)

Make rs1057516943(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

8797909

Gene	PMM2, TMEM186

is a	snp
is	mentioned by
dbSNP	rs1057516943
dbSNP (classic)	rs1057516943
ClinGen	rs1057516943
ebi	rs1057516943
HLI	rs1057516943
Exac	rs1057516943
Gnomad	rs1057516943
Varsome	rs1057516943
LitVar	rs1057516943
Map	rs1057516943
PheGenI	rs1057516943
Biobank	rs1057516943
1000 genomes	rs1057516943
hgdp	rs1057516943
ensembl	rs1057516943
geneview	rs1057516943
scholar	rs1057516943
google	rs1057516943
pharmgkb	rs1057516943
gwascentral	rs1057516943
openSNP	rs1057516943
23andMe	rs1057516943
SNPshot	rs1057516943
SNPdbe	rs1057516943
MSV3d	rs1057516943
GWAS Ctlg	rs1057516943

Max Magnitude

0

ClinVar
Risk	rs1057516943(A;A)
Alt	rs1057516943(A;A)
Reference	Rs1057516943(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.8891766C>A
CLNSRC
CLNACC	RCV000410306.1,