rs104894075

Orientation

plus

Stabilized

plus

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

Make rs104894075(C;G)

Make rs104894075(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74362940

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs104894075
dbSNP (classic)	rs104894075
ClinGen	rs104894075
ebi	rs104894075
HLI	rs104894075
Exac	rs104894075
Gnomad	rs104894075
Varsome	rs104894075
LitVar	rs104894075
Map	rs104894075
PheGenI	rs104894075
Biobank	rs104894075
1000 genomes	rs104894075
hgdp	rs104894075
ensembl	rs104894075
geneview	rs104894075
scholar	rs104894075
google	rs104894075
pharmgkb	rs104894075
gwascentral	rs104894075
openSNP	rs104894075
23andMe	rs104894075
SNPshot	rs104894075
SNPdbe	rs104894075
MSV3d	rs104894075
GWAS Ctlg	rs104894075

Max Magnitude

0

OMIM	606598
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894075(G;G)
Alt	rs104894075(G;G)
Reference	Rs104894075(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease
Variation	info
Gene	GDAP1
CLNDBN	Charcot-Marie-Tooth disease, type 4A Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Reversed	0
HGVS	NC_000008.10:g.75275175C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004410.3, RCV000004411.3, RCV000023562.3,