rs797045385

Orientation

plus

Stabilized

plus

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

Make rs797045385(A;T)

Make rs797045385(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78040732

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045385
dbSNP (classic)	rs797045385
ClinGen	rs797045385
ebi	rs797045385
HLI	rs797045385
Exac	rs797045385
Gnomad	rs797045385
Varsome	rs797045385
LitVar	rs797045385
Map	rs797045385
PheGenI	rs797045385
Biobank	rs797045385
1000 genomes	rs797045385
hgdp	rs797045385
ensembl	rs797045385
geneview	rs797045385
scholar	rs797045385
google	rs797045385
pharmgkb	rs797045385
gwascentral	rs797045385
openSNP	rs797045385
23andMe	rs797045385
SNPshot	rs797045385
SNPdbe	rs797045385
MSV3d	rs797045385
GWAS Ctlg	rs797045385

Max Magnitude

0

ClinVar
Risk	rs797045385(T;T)
Alt	rs797045385(T;T)
Reference	Rs797045385(A;A)
Significance	Probable-Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77296230A>T
CLNSRC
CLNACC	RCV000194316.1,