rs797045348

Orientation

plus

Stabilized

plus

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

Make rs797045348(G;T)

Make rs797045348(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011674

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045348
dbSNP (classic)	rs797045348
ClinGen	rs797045348
ebi	rs797045348
HLI	rs797045348
Exac	rs797045348
Gnomad	rs797045348
Varsome	rs797045348
LitVar	rs797045348
Map	rs797045348
PheGenI	rs797045348
Biobank	rs797045348
1000 genomes	rs797045348
hgdp	rs797045348
ensembl	rs797045348
geneview	rs797045348
scholar	rs797045348
google	rs797045348
pharmgkb	rs797045348
gwascentral	rs797045348
openSNP	rs797045348
23andMe	rs797045348
SNPshot	rs797045348
SNPdbe	rs797045348
MSV3d	rs797045348
GWAS Ctlg	rs797045348

Max Magnitude

0

ClinVar
Risk	rs797045348(T;T)
Alt	rs797045348(T;T)
Reference	Rs797045348(G;G)
Significance	Probable-Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77267171G>T
CLNSRC
CLNACC	RCV000194586.1,