rs387906916

Orientation

minus

Stabilized

minus

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

Make rs387906916(C;T)

Make rs387906916(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

79919443

Gene

ELOVL4

is a	snp
is	mentioned by
dbSNP	rs387906916
dbSNP (classic)	rs387906916
ClinGen	rs387906916
ebi	rs387906916
HLI	rs387906916
Exac	rs387906916
Gnomad	rs387906916
Varsome	rs387906916
LitVar	rs387906916
Map	rs387906916
PheGenI	rs387906916
Biobank	rs387906916
1000 genomes	rs387906916
hgdp	rs387906916
ensembl	rs387906916
geneview	rs387906916
scholar	rs387906916
google	rs387906916
pharmgkb	rs387906916
gwascentral	rs387906916
openSNP	rs387906916
23andMe	rs387906916
SNPshot	rs387906916
SNPdbe	rs387906916
MSV3d	rs387906916
GWAS Ctlg	rs387906916

Max Magnitude

0

ClinVar
Risk	rs387906916(T;T)
Alt	rs387906916(T;T)
Reference	Rs387906916(C;C)
Significance	Pathogenic
Disease	Ichthyosis
Variation	info
Gene	ELOVL4
CLNDBN	Ichthyosis, spastic quadriplegia, and mental retardation
Reversed	1
HGVS	NC_000006.11:g.80629160G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023451.3,