rs397515432

Orientation

plus

Stabilized

plus

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

Make rs397515432(A;A)

Make rs397515432(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74364270

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs397515432
dbSNP (classic)	rs397515432
ClinGen	rs397515432
ebi	rs397515432
HLI	rs397515432
Exac	rs397515432
Gnomad	rs397515432
Varsome	rs397515432
LitVar	rs397515432
Map	rs397515432
PheGenI	rs397515432
Biobank	rs397515432
1000 genomes	rs397515432
hgdp	rs397515432
ensembl	rs397515432
geneview	rs397515432
scholar	rs397515432
google	rs397515432
pharmgkb	rs397515432
gwascentral	rs397515432
openSNP	rs397515432
23andMe	rs397515432
SNPshot	rs397515432
SNPdbe	rs397515432
MSV3d	rs397515432
GWAS Ctlg	rs397515432

Max Magnitude

0

ClinVar
Risk	rs397515432(A;A)
Alt	rs397515432(A;A)
Reference	Rs397515432(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	GDAP1
CLNDBN	Charcot-Marie-Tooth disease, recessive intermediate A
Reversed	0
HGVS	NC_000008.10:g.75276505G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033148.3,