rs104894079

Orientation

plus

Stabilized

plus

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

Make rs104894079(A;C)

Make rs104894079(C;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

74360295

Gene

GDAP1

is a	snp
is	mentioned by
dbSNP	rs104894079
dbSNP (classic)	rs104894079
ClinGen	rs104894079
ebi	rs104894079
HLI	rs104894079
Exac	rs104894079
Gnomad	rs104894079
Varsome	rs104894079
LitVar	rs104894079
Map	rs104894079
PheGenI	rs104894079
Biobank	rs104894079
1000 genomes	rs104894079
hgdp	rs104894079
ensembl	rs104894079
geneview	rs104894079
scholar	rs104894079
google	rs104894079
pharmgkb	rs104894079
gwascentral	rs104894079
openSNP	rs104894079
23andMe	rs104894079
SNPshot	rs104894079
SNPdbe	rs104894079
MSV3d	rs104894079
GWAS Ctlg	rs104894079

Max Magnitude

0

OMIM	606598
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894079(C;C)
Alt	rs104894079(C;C)
Reference	Rs104894079(A;A)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease type 2K
Variation	info
Gene	GDAP1
CLNDBN	Charcot-Marie-Tooth disease type 2K
Reversed	0
HGVS	NC_000008.10:g.75272530A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004419.3,