rs797045330

Orientation

plus

Stabilized

plus

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

Make rs797045330(A;A)

Make rs797045330(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

77998601

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045330
dbSNP (classic)	rs797045330
ClinGen	rs797045330
ebi	rs797045330
HLI	rs797045330
Exac	rs797045330
Gnomad	rs797045330
Varsome	rs797045330
LitVar	rs797045330
Map	rs797045330
PheGenI	rs797045330
Biobank	rs797045330
1000 genomes	rs797045330
hgdp	rs797045330
ensembl	rs797045330
geneview	rs797045330
scholar	rs797045330
google	rs797045330
pharmgkb	rs797045330
gwascentral	rs797045330
openSNP	rs797045330
23andMe	rs797045330
SNPshot	rs797045330
SNPdbe	rs797045330
MSV3d	rs797045330
GWAS Ctlg	rs797045330

Max Magnitude

0

ClinVar
Risk	rs797045330(A;A)
Alt	rs797045330(A;A)
Reference	Rs797045330(C;C)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77254098C>A
CLNSRC
CLNACC	RCV000194569.1,