rs104893970

Orientation

minus

Stabilized

minus

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

Make rs104893970(C;T)

Make rs104893970(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

39927362

Gene

MOCS1

is a	snp
is	mentioned by
dbSNP	rs104893970
dbSNP (classic)	rs104893970
ClinGen	rs104893970
ebi	rs104893970
HLI	rs104893970
Exac	rs104893970
Gnomad	rs104893970
Varsome	rs104893970
LitVar	rs104893970
Map	rs104893970
PheGenI	rs104893970
Biobank	rs104893970
1000 genomes	rs104893970
hgdp	rs104893970
ensembl	rs104893970
geneview	rs104893970
scholar	rs104893970
google	rs104893970
pharmgkb	rs104893970
gwascentral	rs104893970
openSNP	rs104893970
23andMe	rs104893970
SNPshot	rs104893970
SNPdbe	rs104893970
MSV3d	rs104893970
GWAS Ctlg	rs104893970

Max Magnitude

0

OMIM	603707
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104893970(T;T)
Alt	rs104893970(T;T)
Reference	Rs104893970(C;C)
Significance	Pathogenic
Disease	Molybdenum cofactor deficiency
Variation	info
Gene	MOCS1
CLNDBN	Molybdenum cofactor deficiency, complementation group A
Reversed	1
HGVS	NC_000006.11:g.39895101G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006495.3,