rs397515443

Orientation

plus

Stabilized

plus

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

Make rs397515443(C;T)

Make rs397515443(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74364111

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs397515443
dbSNP (classic)	rs397515443
ClinGen	rs397515443
ebi	rs397515443
HLI	rs397515443
Exac	rs397515443
Gnomad	rs397515443
Varsome	rs397515443
LitVar	rs397515443
Map	rs397515443
PheGenI	rs397515443
Biobank	rs397515443
1000 genomes	rs397515443
hgdp	rs397515443
ensembl	rs397515443
geneview	rs397515443
scholar	rs397515443
google	rs397515443
pharmgkb	rs397515443
gwascentral	rs397515443
openSNP	rs397515443
23andMe	rs397515443
SNPshot	rs397515443
SNPdbe	rs397515443
MSV3d	rs397515443
GWAS Ctlg	rs397515443

Max Magnitude

0

ClinVar
Risk	rs397515443(T;T)
Alt	rs397515443(T;T)
Reference	Rs397515443(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.75276346C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000043550.3,