rs397518419

Orientation

minus

Stabilized

minus

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

Make rs397518419(-;-)

Make rs397518419(-;AG)

Reference

GRCh38 38.1/141

Chromosome

6

Position

39906759

Gene

MOCS1

is a	snp
is	mentioned by
dbSNP	rs397518419
dbSNP (classic)	rs397518419
ClinGen	rs397518419
ebi	rs397518419
HLI	rs397518419
Exac	rs397518419
Gnomad	rs397518419
Varsome	rs397518419
LitVar	rs397518419
Map	rs397518419
PheGenI	rs397518419
Biobank	rs397518419
1000 genomes	rs397518419
hgdp	rs397518419
ensembl	rs397518419
geneview	rs397518419
scholar	rs397518419
google	rs397518419
pharmgkb	rs397518419
gwascentral	rs397518419
openSNP	rs397518419
23andMe	rs397518419
SNPshot	rs397518419
SNPdbe	rs397518419
MSV3d	rs397518419
GWAS Ctlg	rs397518419

Max Magnitude

0

ClinVar
Risk	rs397518419(-;-)
Alt	rs397518419(-;-)
Reference	Rs397518419(AG;AG)
Significance	Pathogenic
Disease	Molybdenum cofactor deficiency
Variation	info
Gene	MOCS1
CLNDBN	Molybdenum cofactor deficiency, complementation group A
Reversed	1
HGVS	NC_000006.11:g.39874535_39874536delCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006492.5,