rs397515441

Orientation

plus

Stabilized

plus

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

Make rs397515441(C;G)

Make rs397515441(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74360293

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs397515441
dbSNP (classic)	rs397515441
ClinGen	rs397515441
ebi	rs397515441
HLI	rs397515441
Exac	rs397515441
Gnomad	rs397515441
Varsome	rs397515441
LitVar	rs397515441
Map	rs397515441
PheGenI	rs397515441
Biobank	rs397515441
1000 genomes	rs397515441
hgdp	rs397515441
ensembl	rs397515441
geneview	rs397515441
scholar	rs397515441
google	rs397515441
pharmgkb	rs397515441
gwascentral	rs397515441
openSNP	rs397515441
23andMe	rs397515441
SNPshot	rs397515441
SNPdbe	rs397515441
MSV3d	rs397515441
GWAS Ctlg	rs397515441

Max Magnitude

0

ClinVar
Risk	rs397515441(G;G)
Alt	rs397515441(G;G)
Reference	Rs397515441(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2K
Variation	info
Gene	GDAP1
CLNDBN	Charcot-Marie-Tooth disease type 2K
Reversed	0
HGVS	NC_000008.10:g.75272528C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043548.3,