rs104894519

Orientation

minus

Stabilized

minus

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

Make rs104894519(A;A)

Reference

GRCh38 38.1/141

Chromosome

16

Position

11553576

Gene

LITAF

is a	snp
is	mentioned by
dbSNP	rs104894519
dbSNP (classic)	rs104894519
ClinGen	rs104894519
ebi	rs104894519
HLI	rs104894519
Exac	rs104894519
Gnomad	rs104894519
Varsome	rs104894519
LitVar	rs104894519
Map	rs104894519
PheGenI	rs104894519
Biobank	rs104894519
1000 genomes	rs104894519
hgdp	rs104894519
ensembl	rs104894519
geneview	rs104894519
scholar	rs104894519
google	rs104894519
pharmgkb	rs104894519
gwascentral	rs104894519
openSNP	rs104894519
23andMe	rs104894519
SNPshot	rs104894519
SNPdbe	rs104894519
MSV3d	rs104894519
GWAS Ctlg	rs104894519

Max Magnitude

6.1

OMIM	603795
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894519(A;A)
Alt	rs104894519(A;A)
Reference	Rs104894519(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided
Variation	info
Gene	LITAF
CLNDBN	Charcot-Marie-Tooth disease, type 1C not provided
Reversed	1
HGVS	NC_000016.9:g.11647432C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006429.4, RCV000235719.1,