rs587777192

Orientation

plus

Stabilized

plus

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

Make rs587777192(A;A)

Make rs587777192(A;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196239597

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777192
dbSNP (classic)	rs587777192
ClinGen	rs587777192
ebi	rs587777192
HLI	rs587777192
Exac	rs587777192
Gnomad	rs587777192
Varsome	rs587777192
LitVar	rs587777192
Map	rs587777192
PheGenI	rs587777192
Biobank	rs587777192
1000 genomes	rs587777192
hgdp	rs587777192
ensembl	rs587777192
geneview	rs587777192
scholar	rs587777192
google	rs587777192
pharmgkb	rs587777192
gwascentral	rs587777192
openSNP	rs587777192
23andMe	rs587777192
SNPshot	rs587777192
SNPdbe	rs587777192
MSV3d	rs587777192
GWAS Ctlg	rs587777192

Max Magnitude

0

ClinVar
Risk	rs587777192(A;A)
Alt	rs587777192(A;A)
Reference	Rs587777192(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.195966468G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087317.5,