rs104894490

Orientation

plus

Stabilized

minus

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

Make rs104894490(C;C)

Make rs104894490(C;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

22812252

Gene

NIPA1

is a	snp
is	mentioned by
dbSNP	rs104894490
dbSNP (classic)	rs104894490
ClinGen	rs104894490
ebi	rs104894490
HLI	rs104894490
Exac	rs104894490
Gnomad	rs104894490
Varsome	rs104894490
LitVar	rs104894490
Map	rs104894490
PheGenI	rs104894490
Biobank	rs104894490
1000 genomes	rs104894490
hgdp	rs104894490
ensembl	rs104894490
geneview	rs104894490
scholar	rs104894490
google	rs104894490
pharmgkb	rs104894490
gwascentral	rs104894490
openSNP	rs104894490
23andMe	rs104894490
SNPshot	rs104894490
SNPdbe	rs104894490
MSV3d	rs104894490
GWAS Ctlg	rs104894490

Max Magnitude

0

OMIM	608145
Desc
Variant	0002
Related	also

OMIM	608145
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894490(A;A) rs104894490(C;C)
Alt	rs104894490(A;A) rs104894490(C;C)
Reference	Rs104894490(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 6
Variation	info
Gene	NIPA1
CLNDBN	Spastic paraplegia 6
Reversed	1
HGVS	NC_000015.9:g.23060816C>G; NC_000015.9:g.23060816C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002629.2, RCV000002631.3,