rs587777189

Orientation

plus

Stabilized

plus

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

Make rs587777189(A;A)

Make rs587777189(A;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196248245

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777189
dbSNP (classic)	rs587777189
ClinGen	rs587777189
ebi	rs587777189
HLI	rs587777189
Exac	rs587777189
Gnomad	rs587777189
Varsome	rs587777189
LitVar	rs587777189
Map	rs587777189
PheGenI	rs587777189
Biobank	rs587777189
1000 genomes	rs587777189
hgdp	rs587777189
ensembl	rs587777189
geneview	rs587777189
scholar	rs587777189
google	rs587777189
pharmgkb	rs587777189
gwascentral	rs587777189
openSNP	rs587777189
23andMe	rs587777189
SNPshot	rs587777189
SNPdbe	rs587777189
MSV3d	rs587777189
GWAS Ctlg	rs587777189

Max Magnitude

0

ClinVar
Risk	rs587777189(A;A)
Alt	rs587777189(A;A)
Reference	Rs587777189(G;G)
Significance	Pathogenic
Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy
Variation	info
Gene	PCYT1A
CLNDBN	Spondylometaphyseal dysplasia with cone-rod dystrophy
Reversed	0
HGVS	NC_000003.11:g.195975116G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087314.4,