rs587777190

Orientation

plus

Stabilized

minus

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

Make rs587777190(C;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196247405

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777190
dbSNP (classic)	rs587777190
ClinGen	rs587777190
ebi	rs587777190
HLI	rs587777190
Exac	rs587777190
Gnomad	rs587777190
Varsome	rs587777190
LitVar	rs587777190
Map	rs587777190
PheGenI	rs587777190
Biobank	rs587777190
1000 genomes	rs587777190
hgdp	rs587777190
ensembl	rs587777190
geneview	rs587777190
scholar	rs587777190
google	rs587777190
pharmgkb	rs587777190
gwascentral	rs587777190
openSNP	rs587777190
23andMe	rs587777190
SNPshot	rs587777190
SNPdbe	rs587777190
MSV3d	rs587777190
GWAS Ctlg	rs587777190

Max Magnitude

0

ClinVar
Risk	Rs587777190(G;G)
Alt	Rs587777190(G;G)
Reference	Rs587777190(C;C)
Significance	Pathogenic
Disease	Spondylometaphyseal dysplasia with cone-rod dystrophy
Variation	info
Gene	PCYT1A
CLNDBN	Spondylometaphyseal dysplasia with cone-rod dystrophy
Reversed	1
HGVS	NC_000003.11:g.195974276G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087315.5,