rs786203989

Orientation

minus

Stabilized

minus

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

Make rs786203989(A;G)

Make rs786203989(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

4340985

Gene	CORO7-PAM16, PAM16

is a	snp
is	mentioned by
dbSNP	rs786203989
dbSNP (classic)	rs786203989
ClinGen	rs786203989
ebi	rs786203989
HLI	rs786203989
Exac	rs786203989
Gnomad	rs786203989
Varsome	rs786203989
LitVar	rs786203989
Map	rs786203989
PheGenI	rs786203989
Biobank	rs786203989
1000 genomes	rs786203989
hgdp	rs786203989
ensembl	rs786203989
geneview	rs786203989
scholar	rs786203989
google	rs786203989
pharmgkb	rs786203989
gwascentral	rs786203989
openSNP	rs786203989
23andMe	rs786203989
SNPshot	rs786203989
SNPdbe	rs786203989
MSV3d	rs786203989
GWAS Ctlg	rs786203989

Max Magnitude

0

ClinVar
Risk	rs786203989(G;G)
Alt	rs786203989(G;G)
Reference	Rs786203989(A;A)
Significance	Pathogenic
Disease	Spondylometaphyseal dysplasia
Variation	info
Gene	CORO7-PAM16 PAM16
CLNDBN	Spondylometaphyseal dysplasia, megarbane-dagher-melki type
Reversed	1
HGVS	NC_000016.9:g.4390986T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000167551.4,