rs104894078

Orientation

plus

Stabilized

plus

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

Make rs104894078(C;T)

Make rs104894078(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74360184

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs104894078
dbSNP (classic)	rs104894078
ClinGen	rs104894078
ebi	rs104894078
HLI	rs104894078
Exac	rs104894078
Gnomad	rs104894078
Varsome	rs104894078
LitVar	rs104894078
Map	rs104894078
PheGenI	rs104894078
Biobank	rs104894078
1000 genomes	rs104894078
hgdp	rs104894078
ensembl	rs104894078
geneview	rs104894078
scholar	rs104894078
google	rs104894078
pharmgkb	rs104894078
gwascentral	rs104894078
openSNP	rs104894078
23andMe	rs104894078
SNPshot	rs104894078
SNPdbe	rs104894078
MSV3d	rs104894078
GWAS Ctlg	rs104894078

Max Magnitude

0

OMIM	606598
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894078(T;T)
Alt	rs104894078(T;T)
Reference	Rs104894078(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation	info
Gene	GDAP1
CLNDBN	Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 4A not provided
Reversed	0
HGVS	NC_000008.10:g.75272419C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004418.4, RCV000192249.1, RCV000200521.2, RCV000236074.1,