rs119489101

Orientation

minus

Stabilized

minus

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

Make rs119489101(A;A)

Make rs119489101(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

65871355

Gene

EFEMP2

is a	snp
is	mentioned by
dbSNP	rs119489101
dbSNP (classic)	rs119489101
ClinGen	rs119489101
ebi	rs119489101
HLI	rs119489101
Exac	rs119489101
Gnomad	rs119489101
Varsome	rs119489101
LitVar	rs119489101
Map	rs119489101
PheGenI	rs119489101
Biobank	rs119489101
1000 genomes	rs119489101
hgdp	rs119489101
ensembl	rs119489101
geneview	rs119489101
scholar	rs119489101
google	rs119489101
pharmgkb	rs119489101
gwascentral	rs119489101
openSNP	rs119489101
23andMe	rs119489101
SNPshot	rs119489101
SNPdbe	rs119489101
MSV3d	rs119489101
GWAS Ctlg	rs119489101

Max Magnitude

0

OMIM	604633
Desc
Variant	0001
Related	also

ClinVar
Risk	rs119489101(A;A)
Alt	rs119489101(A;A)
Reference	Rs119489101(G;G)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type 1B Autosomal recessive cutis laxa type IA
Variation	info
Gene	EFEMP2
CLNDBN	Autosomal recessive cutis laxa type 1B Autosomal recessive cutis laxa type IA
Reversed	1
HGVS	NC_000011.9:g.65638826C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005756.2, RCV000032268.1,