rs587777193

Orientation

plus

Stabilized

plus

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

Make rs587777193(-;-)

Make rs587777193(-;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196238802

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777193
dbSNP (classic)	rs587777193
ClinGen	rs587777193
ebi	rs587777193
HLI	rs587777193
Exac	rs587777193
Gnomad	rs587777193
Varsome	rs587777193
LitVar	rs587777193
Map	rs587777193
PheGenI	rs587777193
Biobank	rs587777193
1000 genomes	rs587777193
hgdp	rs587777193
ensembl	rs587777193
geneview	rs587777193
scholar	rs587777193
google	rs587777193
pharmgkb	rs587777193
gwascentral	rs587777193
openSNP	rs587777193
23andMe	rs587777193
SNPshot	rs587777193
SNPdbe	rs587777193
MSV3d	rs587777193
GWAS Ctlg	rs587777193

Max Magnitude

0

ClinVar
Risk	rs587777193(-;-)
Alt	rs587777193(-;-)
Reference	Rs587777193(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.195965673delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087318.4,