rs587777167

Orientation

plus

Stabilized

plus

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

Make rs587777167(A;A)

Make rs587777167(A;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

220191279

Gene

RAB3GAP2

is a	snp
is	mentioned by
dbSNP	rs587777167
dbSNP (classic)	rs587777167
ClinGen	rs587777167
ebi	rs587777167
HLI	rs587777167
Exac	rs587777167
Gnomad	rs587777167
Varsome	rs587777167
LitVar	rs587777167
Map	rs587777167
PheGenI	rs587777167
Biobank	rs587777167
1000 genomes	rs587777167
hgdp	rs587777167
ensembl	rs587777167
geneview	rs587777167
scholar	rs587777167
google	rs587777167
pharmgkb	rs587777167
gwascentral	rs587777167
openSNP	rs587777167
23andMe	rs587777167
SNPshot	rs587777167
SNPdbe	rs587777167
MSV3d	rs587777167
GWAS Ctlg	rs587777167

Max Magnitude

0

ClinVar
Risk	rs587777167(A;A)
Alt	rs587777167(A;A)
Reference	Rs587777167(G;G)
Significance	Pathogenic
Disease	Martsolf syndrome
Variation	info
Gene	RAB3GAP2
CLNDBN	Martsolf syndrome
Reversed	0
HGVS	NC_000001.10:g.220364621G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087150.4,