rs797045352

Orientation

plus

Stabilized

plus

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

Make rs797045352(-;ATTG)

Make rs797045352(ATTG;ATTG)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78012957

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045352
dbSNP (classic)	rs797045352
ClinGen	rs797045352
ebi	rs797045352
HLI	rs797045352
Exac	rs797045352
Gnomad	rs797045352
Varsome	rs797045352
LitVar	rs797045352
Map	rs797045352
PheGenI	rs797045352
Biobank	rs797045352
1000 genomes	rs797045352
hgdp	rs797045352
ensembl	rs797045352
geneview	rs797045352
scholar	rs797045352
google	rs797045352
pharmgkb	rs797045352
gwascentral	rs797045352
openSNP	rs797045352
23andMe	rs797045352
SNPshot	rs797045352
SNPdbe	rs797045352
MSV3d	rs797045352
GWAS Ctlg	rs797045352

Max Magnitude

0

ClinVar
Risk	rs797045352(TGAT;TGAT)
Alt	rs797045352(TGAT;TGAT)
Reference	Rs797045352(-;-)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77268451_77268454dupATTG
CLNSRC
CLNACC	RCV000195170.1,