rs397518461

Orientation

plus

Stabilized

plus

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

Make rs397518461(A;C)

Make rs397518461(C;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219506260

Gene	GMPPA, LOC105373885

is a	snp
is	mentioned by
dbSNP	rs397518461
dbSNP (classic)	rs397518461
ClinGen	rs397518461
ebi	rs397518461
HLI	rs397518461
Exac	rs397518461
Gnomad	rs397518461
Varsome	rs397518461
LitVar	rs397518461
Map	rs397518461
PheGenI	rs397518461
Biobank	rs397518461
1000 genomes	rs397518461
hgdp	rs397518461
ensembl	rs397518461
geneview	rs397518461
scholar	rs397518461
google	rs397518461
pharmgkb	rs397518461
gwascentral	rs397518461
openSNP	rs397518461
23andMe	rs397518461
SNPshot	rs397518461
SNPdbe	rs397518461
MSV3d	rs397518461
GWAS Ctlg	rs397518461

Max Magnitude

0

ClinVar
Risk	rs397518461(C;C)
Alt	rs397518461(C;C)
Reference	Rs397518461(A;A)
Significance	Pathogenic
Disease	Alacrima
Variation	info
Gene	GMPPA
CLNDBN	Alacrima, achalasia, and mental retardation syndrome
Reversed	0
HGVS	NC_000002.11:g.220370982A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074375.2,