rs104894520

Orientation

minus

Stabilized

minus

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

Make rs104894520(A;A)

Reference

GRCh38 38.1/141

Chromosome

16

Position

11553566

Gene

LITAF

is a	snp
is	mentioned by
dbSNP	rs104894520
dbSNP (classic)	rs104894520
ClinGen	rs104894520
ebi	rs104894520
HLI	rs104894520
Exac	rs104894520
Gnomad	rs104894520
Varsome	rs104894520
LitVar	rs104894520
Map	rs104894520
PheGenI	rs104894520
Biobank	rs104894520
1000 genomes	rs104894520
hgdp	rs104894520
ensembl	rs104894520
geneview	rs104894520
scholar	rs104894520
google	rs104894520
pharmgkb	rs104894520
gwascentral	rs104894520
openSNP	rs104894520
23andMe	rs104894520
SNPshot	rs104894520
SNPdbe	rs104894520
MSV3d	rs104894520
GWAS Ctlg	rs104894520

Max Magnitude

6.1

OMIM	603795
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894520(A;A)
Alt	rs104894520(A;A)
Reference	Rs104894520(C;C)
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.11647422G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006430.3,