rs193302865

Orientation

minus

Stabilized

minus

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

Make rs193302865(-;CCGC)

Make rs193302865(CCGC;CCGC)

Reference

GRCh38 38.1/141

Chromosome

11

Position

65867957

Gene

EFEMP2

is a	snp
is	mentioned by
dbSNP	rs193302865
dbSNP (classic)	rs193302865
ClinGen	rs193302865
ebi	rs193302865
HLI	rs193302865
Exac	rs193302865
Gnomad	rs193302865
Varsome	rs193302865
LitVar	rs193302865
Map	rs193302865
PheGenI	rs193302865
Biobank	rs193302865
1000 genomes	rs193302865
hgdp	rs193302865
ensembl	rs193302865
geneview	rs193302865
scholar	rs193302865
google	rs193302865
pharmgkb	rs193302865
gwascentral	rs193302865
openSNP	rs193302865
23andMe	rs193302865
SNPshot	rs193302865
SNPdbe	rs193302865
MSV3d	rs193302865
GWAS Ctlg	rs193302865

Max Magnitude

0

ClinVar
Risk	rs193302865(CCGC;CCGC)
Alt	rs193302865(CCGC;CCGC)
Reference	Rs193302865(-;-)
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.65635429_65635432dupGCGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005758.3, RCV000032265.1,