rs397518462

Orientation

plus

Stabilized

plus

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

Make rs397518462(A;A)

Make rs397518462(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

219504138

Gene	GMPPA, LOC105373885

is a	snp
is	mentioned by
dbSNP	rs397518462
dbSNP (classic)	rs397518462
ClinGen	rs397518462
ebi	rs397518462
HLI	rs397518462
Exac	rs397518462
Gnomad	rs397518462
Varsome	rs397518462
LitVar	rs397518462
Map	rs397518462
PheGenI	rs397518462
Biobank	rs397518462
1000 genomes	rs397518462
hgdp	rs397518462
ensembl	rs397518462
geneview	rs397518462
scholar	rs397518462
google	rs397518462
pharmgkb	rs397518462
gwascentral	rs397518462
openSNP	rs397518462
23andMe	rs397518462
SNPshot	rs397518462
SNPdbe	rs397518462
MSV3d	rs397518462
GWAS Ctlg	rs397518462

Max Magnitude

0

ClinVar
Risk	rs397518462(A;A)
Alt	rs397518462(A;A)
Reference	Rs397518462(G;G)
Significance	Pathogenic
Disease	Alacrima
Variation	info
Gene	GMPPA
CLNDBN	Alacrima, achalasia, and mental retardation syndrome
Reversed	0
HGVS	NC_000002.11:g.220368860G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000074376.2,