rs1057519342

Orientation

plus

Stabilized

plus

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

Make rs1057519342(C;T)

Make rs1057519342(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

4789856

Gene	AP5Z1, MIR4656

is a	snp
is	mentioned by
dbSNP	rs1057519342
dbSNP (classic)	rs1057519342
ClinGen	rs1057519342
ebi	rs1057519342
HLI	rs1057519342
Exac	rs1057519342
Gnomad	rs1057519342
Varsome	rs1057519342
LitVar	rs1057519342
Map	rs1057519342
PheGenI	rs1057519342
Biobank	rs1057519342
1000 genomes	rs1057519342
hgdp	rs1057519342
ensembl	rs1057519342
geneview	rs1057519342
scholar	rs1057519342
google	rs1057519342
pharmgkb	rs1057519342
gwascentral	rs1057519342
openSNP	rs1057519342
23andMe	rs1057519342
SNPshot	rs1057519342
SNPdbe	rs1057519342
MSV3d	rs1057519342
GWAS Ctlg	rs1057519342

Max Magnitude

0

ClinVar
Risk	rs1057519342(T;T)
Alt	rs1057519342(T;T)
Reference	Rs1057519342(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 48
Variation	info
Gene	MIR4656 AP5Z1
CLNDBN	Spastic paraplegia 48, autosomal recessive
Reversed	0
HGVS	NC_000007.13:g.4829487C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416332.1,