rs730882207

Orientation

minus

Stabilized

minus

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

Make rs730882207(C;T)

Make rs730882207(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

112204453

Gene

EPB41L4A

is a	snp
is	mentioned by
dbSNP	rs730882207
dbSNP (classic)	rs730882207
ClinGen	rs730882207
ebi	rs730882207
HLI	rs730882207
Exac	rs730882207
Gnomad	rs730882207
Varsome	rs730882207
LitVar	rs730882207
Map	rs730882207
PheGenI	rs730882207
Biobank	rs730882207
1000 genomes	rs730882207
hgdp	rs730882207
ensembl	rs730882207
geneview	rs730882207
scholar	rs730882207
google	rs730882207
pharmgkb	rs730882207
gwascentral	rs730882207
openSNP	rs730882207
23andMe	rs730882207
SNPshot	rs730882207
SNPdbe	rs730882207
MSV3d	rs730882207
GWAS Ctlg	rs730882207

Max Magnitude

0

ClinVar
Risk	rs730882207(T;T)
Alt	rs730882207(T;T)
Reference	Rs730882207(C;C)
Significance	Probable-Pathogenic
Disease	Failure to thrive Spastic paraplegia
Variation	info
Gene	EPB41L4A
CLNDBN	Failure to thrive Spastic paraplegia
Reversed	1
HGVS	NC_000005.9:g.111540150G>A
CLNSRC
CLNACC	RCV000162113.1,