rs104894521

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;T)	6.1	Charcot-Marie-Tooth Disease, type 1
(T;T)	0	common in clinvar

Make rs104894521(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

11553564

Gene

LITAF

is a	snp
is	mentioned by
dbSNP	rs104894521
dbSNP (classic)	rs104894521
ClinGen	rs104894521
ebi	rs104894521
HLI	rs104894521
Exac	rs104894521
Gnomad	rs104894521
Varsome	rs104894521
LitVar	rs104894521
Map	rs104894521
PheGenI	rs104894521
Biobank	rs104894521
1000 genomes	rs104894521
hgdp	rs104894521
ensembl	rs104894521
geneview	rs104894521
scholar	rs104894521
google	rs104894521
pharmgkb	rs104894521
gwascentral	rs104894521
openSNP	rs104894521
23andMe	rs104894521
SNPshot	rs104894521
SNPdbe	rs104894521
MSV3d	rs104894521
GWAS Ctlg	rs104894521

Max Magnitude

6.1

OMIM	603795
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894521(G;G)
Alt	rs104894521(G;G)
Reference	Rs104894521(T;T)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	LITAF
CLNDBN	Charcot-Marie-Tooth disease, type 1C
Reversed	1
HGVS	NC_000016.9:g.11647420A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006431.1,