rs397514734

Orientation

plus

Stabilized

plus

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

Make rs397514734(A;A)

Make rs397514734(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

228158545

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs397514734
dbSNP (classic)	rs397514734
ClinGen	rs397514734
ebi	rs397514734
HLI	rs397514734
Exac	rs397514734
Gnomad	rs397514734
Varsome	rs397514734
LitVar	rs397514734
Map	rs397514734
PheGenI	rs397514734
Biobank	rs397514734
1000 genomes	rs397514734
hgdp	rs397514734
ensembl	rs397514734
geneview	rs397514734
scholar	rs397514734
google	rs397514734
pharmgkb	rs397514734
gwascentral	rs397514734
openSNP	rs397514734
23andMe	rs397514734
SNPshot	rs397514734
SNPdbe	rs397514734
MSV3d	rs397514734
GWAS Ctlg	rs397514734

Max Magnitude

0

ClinVar
Risk	rs397514734(A;A)
Alt	rs397514734(A;A)
Reference	Rs397514734(G;G)
Significance	Pathogenic
Disease	Leukodystrophy
Variation	info
Gene	GJC2
CLNDBN	Leukodystrophy, hypomyelinating, 2
Reversed	0
HGVS	NC_000001.10:g.228346246G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054496.5,