rs587777196

Orientation

plus

Stabilized

plus

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

Make rs587777196(-;C)

Make rs587777196(C;C)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196238824

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs587777196
dbSNP (classic)	rs587777196
ClinGen	rs587777196
ebi	rs587777196
HLI	rs587777196
Exac	rs587777196
Gnomad	rs587777196
Varsome	rs587777196
LitVar	rs587777196
Map	rs587777196
PheGenI	rs587777196
Biobank	rs587777196
1000 genomes	rs587777196
hgdp	rs587777196
ensembl	rs587777196
geneview	rs587777196
scholar	rs587777196
google	rs587777196
pharmgkb	rs587777196
gwascentral	rs587777196
openSNP	rs587777196
23andMe	rs587777196
SNPshot	rs587777196
SNPdbe	rs587777196
MSV3d	rs587777196
GWAS Ctlg	rs587777196

Max Magnitude

0

ClinVar
Risk	rs587777196(C;C)
Alt	rs587777196(C;C)
Reference	Rs587777196(-;-)
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.195965695dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087322.3,