rs75469429

Orientation

plus

Stabilized

plus

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

Make rs75469429(C;T)

Make rs75469429(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

228157866

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs75469429
dbSNP (classic)	rs75469429
ClinGen	rs75469429
ebi	rs75469429
HLI	rs75469429
Exac	rs75469429
Gnomad	rs75469429
Varsome	rs75469429
LitVar	rs75469429
Map	rs75469429
PheGenI	rs75469429
Biobank	rs75469429
1000 genomes	rs75469429
hgdp	rs75469429
ensembl	rs75469429
geneview	rs75469429
scholar	rs75469429
google	rs75469429
pharmgkb	rs75469429
gwascentral	rs75469429
openSNP	rs75469429
23andMe	rs75469429
SNPshot	rs75469429
SNPdbe	rs75469429
MSV3d	rs75469429
GWAS Ctlg	rs75469429

GMAF

0.007346

Max Magnitude

0

ClinVar
Risk	rs75469429(G;G) rs75469429(T;T)
Alt	rs75469429(G;G) rs75469429(T;T)
Reference	Rs75469429(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia 44 not provided Spastic paraplegia
Variation	info
Gene	GJC2
CLNDBN	Spastic paraplegia 44, autosomal recessive not provided Spastic paraplegia
Reversed	0
HGVS	NC_000001.10:g.228345567C>G; NC_000001.10:g.228345567C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002159.3, RCV000224514.1, RCV000232277.1,