rs786200943

Orientation

minus

Stabilized

minus

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

Make rs786200943(-;-)

Make rs786200943(-;CGCGCCTGCTCCCGCTCCAGGG)

Make rs786200943(CGCGCCTGCTCCCGCTCCAGGG;CGCGCCTGCTCCCGCTCCAGGG)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

1232601

Gene	B3GALT6, SDF4

is a	snp
is	mentioned by
dbSNP	rs786200943
dbSNP (classic)	rs786200943
ClinGen	rs786200943
ebi	rs786200943
HLI	rs786200943
Exac	rs786200943
Gnomad	rs786200943
Varsome	rs786200943
LitVar	rs786200943
Map	rs786200943
PheGenI	rs786200943
Biobank	rs786200943
1000 genomes	rs786200943
hgdp	rs786200943
ensembl	rs786200943
geneview	rs786200943
scholar	rs786200943
google	rs786200943
pharmgkb	rs786200943
gwascentral	rs786200943
openSNP	rs786200943
23andMe	rs786200943
SNPshot	rs786200943
SNPdbe	rs786200943
MSV3d	rs786200943
GWAS Ctlg	rs786200943

Max Magnitude

0

ClinVar
Risk	rs786200943(-;-)
Alt	rs786200943(-;-)
Reference	Rs786200943(TGCTCCCGCTCCAGGGCGCGCC;TGCTCCCGCTCCAGGGCGCGCC)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia with joint laxity
Variation	info
Gene	B3GALT6 SDF4
CLNDBN	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
Reversed	1
HGVS	NC_000001.10:g.1167981_1168002del22
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054403.4,