rs540053239

Orientation

plus

Stabilized

plus

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

Make rs540053239(C;G)

Make rs540053239(G;G)

Reference

GRCh38 38.1/142

Chromosome

3

Position

196241987

Gene

PCYT1A

is a	snp
is	mentioned by
dbSNP	rs540053239
dbSNP (classic)	rs540053239
ClinGen	rs540053239
ebi	rs540053239
HLI	rs540053239
Exac	rs540053239
Gnomad	rs540053239
Varsome	rs540053239
LitVar	rs540053239
Map	rs540053239
PheGenI	rs540053239
Biobank	rs540053239
1000 genomes	rs540053239
hgdp	rs540053239
ensembl	rs540053239
geneview	rs540053239
scholar	rs540053239
google	rs540053239
pharmgkb	rs540053239
gwascentral	rs540053239
openSNP	rs540053239
23andMe	rs540053239
SNPshot	rs540053239
SNPdbe	rs540053239
MSV3d	rs540053239
GWAS Ctlg	rs540053239

Max Magnitude

0

ClinVar
Risk	rs540053239(G;G) rs540053239(T;T)
Alt	rs540053239(G;G) rs540053239(T;T)
Reference	Rs540053239(C;C)
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.195968858C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000087319.5,