rs587777195

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0	common in clinvar

Make rs587777195(A;G)

Make rs587777195(G;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196242085

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777195
dbSNP (classic)	rs587777195
ClinGen	rs587777195
ebi	rs587777195
HLI	rs587777195
Exac	rs587777195
Gnomad	rs587777195
Varsome	rs587777195
LitVar	rs587777195
Map	rs587777195
PheGenI	rs587777195
Biobank	rs587777195
1000 genomes	rs587777195
hgdp	rs587777195
ensembl	rs587777195
geneview	rs587777195
scholar	rs587777195
google	rs587777195
pharmgkb	rs587777195
gwascentral	rs587777195
openSNP	rs587777195
23andMe	rs587777195
SNPshot	rs587777195
SNPdbe	rs587777195
MSV3d	rs587777195
GWAS Ctlg	rs587777195

Max Magnitude

0

ClinVar
Risk	Rs587777195(A;A) rs587777195(G;G)
Alt	Rs587777195(A;A) rs587777195(G;G)
Reference	Rs587777195(T;T)
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.195968956A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087321.5,