rs587777191

Orientation

plus

Stabilized

minus

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

Make rs587777191(C;T)

Make rs587777191(T;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196248246

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777191
dbSNP (classic)	rs587777191
ClinGen	rs587777191
ebi	rs587777191
HLI	rs587777191
Exac	rs587777191
Gnomad	rs587777191
Varsome	rs587777191
LitVar	rs587777191
Map	rs587777191
PheGenI	rs587777191
Biobank	rs587777191
1000 genomes	rs587777191
hgdp	rs587777191
ensembl	rs587777191
geneview	rs587777191
scholar	rs587777191
google	rs587777191
pharmgkb	rs587777191
gwascentral	rs587777191
openSNP	rs587777191
23andMe	rs587777191
SNPshot	rs587777191
SNPdbe	rs587777191
MSV3d	rs587777191
GWAS Ctlg	rs587777191

Max Magnitude

0

ClinVar
Risk	Rs587777191(C;C) rs587777191(T;T)
Alt	Rs587777191(C;C) rs587777191(T;T)
Reference	Rs587777191(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.195975117C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087316.4,