rs387907108

Orientation

plus

Stabilized

plus

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

Make rs387907108(A;C)

Make rs387907108(C;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

24322224

Gene	SPECC1L, SPECC1L-ADORA2A

is a	snp
is	mentioned by
dbSNP	rs387907108
dbSNP (classic)	rs387907108
ClinGen	rs387907108
ebi	rs387907108
HLI	rs387907108
Exac	rs387907108
Gnomad	rs387907108
Varsome	rs387907108
LitVar	rs387907108
Map	rs387907108
PheGenI	rs387907108
Biobank	rs387907108
1000 genomes	rs387907108
hgdp	rs387907108
ensembl	rs387907108
geneview	rs387907108
scholar	rs387907108
google	rs387907108
pharmgkb	rs387907108
gwascentral	rs387907108
openSNP	rs387907108
23andMe	rs387907108
SNPshot	rs387907108
SNPdbe	rs387907108
MSV3d	rs387907108
GWAS Ctlg	rs387907108

Max Magnitude

0

ClinVar
Risk	rs387907108(C;C)
Alt	rs387907108(C;C)
Reference	Rs387907108(A;A)
Significance	Pathogenic
Disease	Oculomaxillofacial dysostosis
Variation	info
Gene	SPECC1L-ADORA2A SPECC1L
CLNDBN	Oculomaxillofacial dysostosis
Reversed	0
HGVS	NC_000022.10:g.24718192A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024097.3,