rs397518420

Orientation

plus

Stabilized

plus

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

Make rs397518420(A;C)

Make rs397518420(C;C)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67159416

Gene	GPHN, LOC105370538

is a	snp
is	mentioned by
dbSNP	rs397518420
dbSNP (classic)	rs397518420
ClinGen	rs397518420
ebi	rs397518420
HLI	rs397518420
Exac	rs397518420
Gnomad	rs397518420
Varsome	rs397518420
LitVar	rs397518420
Map	rs397518420
PheGenI	rs397518420
Biobank	rs397518420
1000 genomes	rs397518420
hgdp	rs397518420
ensembl	rs397518420
geneview	rs397518420
scholar	rs397518420
google	rs397518420
pharmgkb	rs397518420
gwascentral	rs397518420
openSNP	rs397518420
23andMe	rs397518420
SNPshot	rs397518420
SNPdbe	rs397518420
MSV3d	rs397518420
GWAS Ctlg	rs397518420

Max Magnitude

0

ClinVar
Risk	rs397518420(C;C)
Alt	rs397518420(C;C)
Reference	Rs397518420(A;A)
Significance	Pathogenic
Disease	Molybdenum cofactor deficiency
Variation	info
Gene	GPHN
CLNDBN	Molybdenum cofactor deficiency, complementation group C
Reversed	0
HGVS	NC_000014.8:g.67626133A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000074361.2,