rs397515423

Orientation

plus

Stabilized

plus

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

Make rs397515423(C;T)

Make rs397515423(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

63654374

Gene

PGM1

is a	snp
is	mentioned by
dbSNP	rs397515423
dbSNP (classic)	rs397515423
ClinGen	rs397515423
ebi	rs397515423
HLI	rs397515423
Exac	rs397515423
Gnomad	rs397515423
Varsome	rs397515423
LitVar	rs397515423
Map	rs397515423
PheGenI	rs397515423
Biobank	rs397515423
1000 genomes	rs397515423
hgdp	rs397515423
ensembl	rs397515423
geneview	rs397515423
scholar	rs397515423
google	rs397515423
pharmgkb	rs397515423
gwascentral	rs397515423
openSNP	rs397515423
23andMe	rs397515423
SNPshot	rs397515423
SNPdbe	rs397515423
MSV3d	rs397515423
GWAS Ctlg	rs397515423

Max Magnitude

0

ClinVar
Risk	rs397515423(T;T)
Alt	rs397515423(T;T)
Reference	Rs397515423(C;C)
Significance	Pathogenic
Disease	Congenital disorder of glycosylation type 1t
Variation	info
Gene	PGM1
CLNDBN	Congenital disorder of glycosylation type 1t
Reversed	0
HGVS	NC_000001.10:g.64120045C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032991.26,