rs587777194

Orientation

plus

Stabilized

minus

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

Make rs587777194(C;T)

Make rs587777194(T;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196247468

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777194
dbSNP (classic)	rs587777194
ClinGen	rs587777194
ebi	rs587777194
HLI	rs587777194
Exac	rs587777194
Gnomad	rs587777194
Varsome	rs587777194
LitVar	rs587777194
Map	rs587777194
PheGenI	rs587777194
Biobank	rs587777194
1000 genomes	rs587777194
hgdp	rs587777194
ensembl	rs587777194
geneview	rs587777194
scholar	rs587777194
google	rs587777194
pharmgkb	rs587777194
gwascentral	rs587777194
openSNP	rs587777194
23andMe	rs587777194
SNPshot	rs587777194
SNPdbe	rs587777194
MSV3d	rs587777194
GWAS Ctlg	rs587777194

Max Magnitude

0

ClinVar
Risk	Rs587777194(C;C) rs587777194(T;T)
Alt	Rs587777194(C;C) rs587777194(T;T)
Reference	Rs587777194(G;G)
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.195974339C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087320.4,