rs1057518793

Orientation

minus

Stabilized

minus

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

Make rs1057518793(C;T)

Make rs1057518793(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

43949933

Gene

NDP

is a	snp
is	mentioned by
dbSNP	rs1057518793
dbSNP (classic)	rs1057518793
ClinGen	rs1057518793
ebi	rs1057518793
HLI	rs1057518793
Exac	rs1057518793
Gnomad	rs1057518793
Varsome	rs1057518793
LitVar	rs1057518793
Map	rs1057518793
PheGenI	rs1057518793
Biobank	rs1057518793
1000 genomes	rs1057518793
hgdp	rs1057518793
ensembl	rs1057518793
geneview	rs1057518793
scholar	rs1057518793
google	rs1057518793
pharmgkb	rs1057518793
gwascentral	rs1057518793
openSNP	rs1057518793
23andMe	rs1057518793
SNPshot	rs1057518793
SNPdbe	rs1057518793
MSV3d	rs1057518793
GWAS Ctlg	rs1057518793

Max Magnitude

0

ClinVar
Risk	rs1057518793(T;T)
Alt	rs1057518793(T;T)
Reference	Rs1057518793(C;C)
Significance	Probable-Pathogenic
Disease	Atrophia bulborum hereditaria
Variation	info
Gene	NDP
CLNDBN	Atrophia bulborum hereditaria
Reversed	1
HGVS	NC_000023.10:g.43809179G>A
CLNSRC
CLNACC	RCV000415091.1,