rs104894532

Orientation

plus

Stabilized

plus

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

Make rs104894532(A;A)

Make rs104894532(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

8797908

Gene	PMM2, TMEM186

is a	snp
is	mentioned by
dbSNP	rs104894532
dbSNP (classic)	rs104894532
ClinGen	rs104894532
ebi	rs104894532
HLI	rs104894532
Exac	rs104894532
Gnomad	rs104894532
Varsome	rs104894532
LitVar	rs104894532
Map	rs104894532
PheGenI	rs104894532
Biobank	rs104894532
1000 genomes	rs104894532
hgdp	rs104894532
ensembl	rs104894532
geneview	rs104894532
scholar	rs104894532
google	rs104894532
pharmgkb	rs104894532
gwascentral	rs104894532
openSNP	rs104894532
23andMe	rs104894532
SNPshot	rs104894532
SNPdbe	rs104894532
MSV3d	rs104894532
GWAS Ctlg	rs104894532

Max Magnitude

0

OMIM	601785
Desc
Variant	0015
Related	also

ClinVar
Risk	rs104894532(A;A)
Alt	rs104894532(A;A)
Reference	Rs104894532(G;G)
Significance	Other
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.8891765G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008159.6,