rs398122391

Orientation

plus

Stabilized

plus

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

Make rs398122391(-;-)

Make rs398122391(-;CT)

Reference

GRCh38 38.1/141

Chromosome

21

Position

45510091

Gene	COL18A1, SLC19A1

is a	snp
is	mentioned by
dbSNP	rs398122391
dbSNP (classic)	rs398122391
ClinGen	rs398122391
ebi	rs398122391
HLI	rs398122391
Exac	rs398122391
Gnomad	rs398122391
Varsome	rs398122391
LitVar	rs398122391
Map	rs398122391
PheGenI	rs398122391
Biobank	rs398122391
1000 genomes	rs398122391
hgdp	rs398122391
ensembl	rs398122391
geneview	rs398122391
scholar	rs398122391
google	rs398122391
pharmgkb	rs398122391
gwascentral	rs398122391
openSNP	rs398122391
23andMe	rs398122391
SNPshot	rs398122391
SNPdbe	rs398122391
MSV3d	rs398122391
GWAS Ctlg	rs398122391

Max Magnitude

0

ClinVar
Risk	rs398122391(-;-)
Alt	rs398122391(-;-)
Reference	Rs398122391(CT;CT)
Significance	Pathogenic
Disease	Knobloch syndrome 1 not provided
Variation	info
Gene	COL18A1
CLNDBN	Knobloch syndrome 1 not provided
Reversed	0
HGVS	NC_000021.8:g.46930005_46930006delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000055632.29, RCV000479282.1,