rs104894080

Orientation

plus

Stabilized

plus

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

Make rs104894080(C;T)

Make rs104894080(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74364005

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs104894080
dbSNP (classic)	rs104894080
ClinGen	rs104894080
ebi	rs104894080
HLI	rs104894080
Exac	rs104894080
Gnomad	rs104894080
Varsome	rs104894080
LitVar	rs104894080
Map	rs104894080
PheGenI	rs104894080
Biobank	rs104894080
1000 genomes	rs104894080
hgdp	rs104894080
ensembl	rs104894080
geneview	rs104894080
scholar	rs104894080
google	rs104894080
pharmgkb	rs104894080
gwascentral	rs104894080
openSNP	rs104894080
23andMe	rs104894080
SNPshot	rs104894080
SNPdbe	rs104894080
MSV3d	rs104894080
GWAS Ctlg	rs104894080

Max Magnitude

0

OMIM	606598
Desc
Variant	0011
Related	also

ClinVar
Risk	rs104894080(T;T)
Alt	rs104894080(T;T)
Reference	Rs104894080(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Elevated alkaline phosphatase Elevated serum creatine phosphokinase Peripheral axonal neuropathy Polyneuropathy Sensory neuropathy not provided
Variation	info
Gene	GDAP1
CLNDBN	Charcot-Marie-Tooth disease, recessive intermediate A Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease, type 4A Elevated alkaline phosphatase Elevated serum creatine phosphokinase Peripheral axonal neuropathy Polyneuropathy Sensory neuropathy not provided
Reversed	0
HGVS	NC_000008.10:g.75276240C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004420.2, RCV000033147.3, RCV000034153.2, RCV000414821.1, RCV000439841.1,