rs797045369

Orientation

plus

Stabilized

plus

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

Make rs797045369(AGTACAGG;AGTACAGG)

Make rs797045369(AGTACAGG;TTTGA)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

78031415

Gene

ATP7A

is a	snp
is	mentioned by
dbSNP	rs797045369
dbSNP (classic)	rs797045369
ClinGen	rs797045369
ebi	rs797045369
HLI	rs797045369
Exac	rs797045369
Gnomad	rs797045369
Varsome	rs797045369
LitVar	rs797045369
Map	rs797045369
PheGenI	rs797045369
Biobank	rs797045369
1000 genomes	rs797045369
hgdp	rs797045369
ensembl	rs797045369
geneview	rs797045369
scholar	rs797045369
google	rs797045369
pharmgkb	rs797045369
gwascentral	rs797045369
openSNP	rs797045369
23andMe	rs797045369
SNPshot	rs797045369
SNPdbe	rs797045369
MSV3d	rs797045369
GWAS Ctlg	rs797045369

Max Magnitude

0

ClinVar
Risk	rs797045369(AGTACAGG;AGTACAGG)
Alt	rs797045369(AGTACAGG;AGTACAGG)
Reference	Rs797045369(TTTGA;TTTGA)
Significance	Pathogenic
Disease	Menkes kinky-hair syndrome
Variation	info
Gene	ATP7A
CLNDBN	Menkes kinky-hair syndrome
Reversed	0
HGVS	NC_000023.10:g.77286913_77286917delTTTGAinsAGTACAGG
CLNSRC
CLNACC	RCV000193069.1,