rs797045343

Orientation

plus

Stabilized

plus

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

Make rs797045343(-;TTCTGTATTCCTGTAATGGGGCTGATGATAT)

Make rs797045343(TTCTGTATTCCTGTAATGGGGCTGATGATAT;TTCTGTATTCCTGTAATGGGGCTGATGATAT)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78011510

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045343
dbSNP (classic)	rs797045343
ClinGen	rs797045343
ebi	rs797045343
HLI	rs797045343
Exac	rs797045343
Gnomad	rs797045343
Varsome	rs797045343
LitVar	rs797045343
Map	rs797045343
PheGenI	rs797045343
Biobank	rs797045343
1000 genomes	rs797045343
hgdp	rs797045343
ensembl	rs797045343
geneview	rs797045343
scholar	rs797045343
google	rs797045343
pharmgkb	rs797045343
gwascentral	rs797045343
openSNP	rs797045343
23andMe	rs797045343
SNPshot	rs797045343
SNPdbe	rs797045343
MSV3d	rs797045343
GWAS Ctlg	rs797045343

Max Magnitude

0

ClinVar
Risk	rs797045343(TTTCTGTATTCCTGTAATGGGGCTGATGATA;TTTCTGTATTCCTGTAATGGGGCTGATGATA)
Alt	rs797045343(TTTCTGTATTCCTGTAATGGGGCTGATGATA;TTTCTGTATTCCTGTAATGGGGCTGATGATA)
Reference	Rs797045343(-;-)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77266977_77267007dup31
CLNSRC
CLNACC	RCV000192463.1,