rs730882241

Orientation

plus

Stabilized

plus

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

Make rs730882241(A;A)

Make rs730882241(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

230995876

Gene

ARV1

is a	snp
is	mentioned by
dbSNP	rs730882241
dbSNP (classic)	rs730882241
ClinGen	rs730882241
ebi	rs730882241
HLI	rs730882241
Exac	rs730882241
Gnomad	rs730882241
Varsome	rs730882241
LitVar	rs730882241
Map	rs730882241
PheGenI	rs730882241
Biobank	rs730882241
1000 genomes	rs730882241
hgdp	rs730882241
ensembl	rs730882241
geneview	rs730882241
scholar	rs730882241
google	rs730882241
pharmgkb	rs730882241
gwascentral	rs730882241
openSNP	rs730882241
23andMe	rs730882241
SNPshot	rs730882241
SNPdbe	rs730882241
MSV3d	rs730882241
GWAS Ctlg	rs730882241

Max Magnitude

0

ClinVar
Risk	rs730882241(A;A)
Alt	rs730882241(A;A)
Reference	Rs730882241(G;G)
Significance	Pathogenic
Disease	Blindness Neurodegeneration Epileptic encephalopathy
Variation	info
Gene	ARV1
CLNDBN	Blindness Neurodegeneration Epileptic encephalopathy, early infantile, 38
Reversed	0
HGVS	NC_000001.10:g.231131622G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000162175.1, RCV000235018.2,