rs886037627

Orientation

plus

Stabilized

plus

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

Make rs886037627(-;C)

Make rs886037627(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

21

Position

45504511

Gene	COL18A1, SLC19A1

is a	snp
is	mentioned by
dbSNP	rs886037627
dbSNP (classic)	rs886037627
ClinGen	rs886037627
ebi	rs886037627
HLI	rs886037627
Exac	rs886037627
Gnomad	rs886037627
Varsome	rs886037627
LitVar	rs886037627
Map	rs886037627
PheGenI	rs886037627
Biobank	rs886037627
1000 genomes	rs886037627
hgdp	rs886037627
ensembl	rs886037627
geneview	rs886037627
scholar	rs886037627
google	rs886037627
pharmgkb	rs886037627
gwascentral	rs886037627
openSNP	rs886037627
23andMe	rs886037627
SNPshot	rs886037627
SNPdbe	rs886037627
MSV3d	rs886037627
GWAS Ctlg	rs886037627

Max Magnitude

0

ClinVar
Risk	rs886037627(C;C)
Alt	rs886037627(C;C)
Reference	Rs886037627(-;-)
Significance	Pathogenic
Disease	Knobloch syndrome 1
Variation	info
Gene	COL18A1
CLNDBN	Knobloch syndrome 1
Reversed	0
HGVS	NC_000021.8:g.46924425dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018654.29,