rs104894077

Orientation

plus

Stabilized

plus

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

Make rs104894077(C;T)

Make rs104894077(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74361886

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs104894077
dbSNP (classic)	rs104894077
ClinGen	rs104894077
ebi	rs104894077
HLI	rs104894077
Exac	rs104894077
Gnomad	rs104894077
Varsome	rs104894077
LitVar	rs104894077
Map	rs104894077
PheGenI	rs104894077
Biobank	rs104894077
1000 genomes	rs104894077
hgdp	rs104894077
ensembl	rs104894077
geneview	rs104894077
scholar	rs104894077
google	rs104894077
pharmgkb	rs104894077
gwascentral	rs104894077
openSNP	rs104894077
23andMe	rs104894077
SNPshot	rs104894077
SNPdbe	rs104894077
MSV3d	rs104894077
GWAS Ctlg	rs104894077

GMAF

0.0

Max Magnitude

0

OMIM	606598
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894077(T;T)
Alt	rs104894077(T;T)
Reference	Rs104894077(C;C)
Significance	Pathogenic
Disease	Neuropathy Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation	info
Gene	GDAP1
CLNDBN	Neuropathy, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease, type 4A not provided
Reversed	0
HGVS	NC_000008.10:g.75274121C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004413.3, RCV000031963.1, RCV000204463.2, RCV000236485.1,