rs387907043

Orientation

plus

Stabilized

plus

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

Make rs387907043(G;G)

Make rs387907043(G;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63930873

Gene

DNAJC5

is a	snp
is	mentioned by
dbSNP	rs387907043
dbSNP (classic)	rs387907043
ClinGen	rs387907043
ebi	rs387907043
HLI	rs387907043
Exac	rs387907043
Gnomad	rs387907043
Varsome	rs387907043
LitVar	rs387907043
Map	rs387907043
PheGenI	rs387907043
Biobank	rs387907043
1000 genomes	rs387907043
hgdp	rs387907043
ensembl	rs387907043
geneview	rs387907043
scholar	rs387907043
google	rs387907043
pharmgkb	rs387907043
gwascentral	rs387907043
openSNP	rs387907043
23andMe	rs387907043
SNPshot	rs387907043
SNPdbe	rs387907043
MSV3d	rs387907043
GWAS Ctlg	rs387907043

Max Magnitude

0

ClinVar
Risk	rs387907043(G;G)
Alt	rs387907043(G;G)
Reference	Rs387907043(T;T)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 4B autosomal dominant
Variation	info
Gene	DNAJC5
CLNDBN	Ceroid lipofuscinosis neuronal 4B autosomal dominant
Reversed	0
HGVS	NC_000020.10:g.62562226T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023879.4,