rs864309651

Orientation

plus

Stabilized

plus

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

Make rs864309651(-;A)

Make rs864309651(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

57230716

Gene

RSPRY1

is a	snp
is	mentioned by
dbSNP	rs864309651
dbSNP (classic)	rs864309651
ClinGen	rs864309651
ebi	rs864309651
HLI	rs864309651
Exac	rs864309651
Gnomad	rs864309651
Varsome	rs864309651
LitVar	rs864309651
Map	rs864309651
PheGenI	rs864309651
Biobank	rs864309651
1000 genomes	rs864309651
hgdp	rs864309651
ensembl	rs864309651
geneview	rs864309651
scholar	rs864309651
google	rs864309651
pharmgkb	rs864309651
gwascentral	rs864309651
openSNP	rs864309651
23andMe	rs864309651
SNPshot	rs864309651
SNPdbe	rs864309651
MSV3d	rs864309651
GWAS Ctlg	rs864309651

Max Magnitude

0

ClinVar
Risk	rs864309651(A;A)
Alt	rs864309651(A;A)
Reference	Rs864309651(-;-)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia
Variation	info
Gene	RSPRY1
CLNDBN	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
Reversed	0
HGVS	NC_000016.9:g.57264628dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000203230.1,