rs193302864

Orientation

minus

Stabilized

minus

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

Make rs193302864(A;C)

Make rs193302864(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

65869976

Gene

EFEMP2

is a	snp
is	mentioned by
dbSNP	rs193302864
dbSNP (classic)	rs193302864
ClinGen	rs193302864
ebi	rs193302864
HLI	rs193302864
Exac	rs193302864
Gnomad	rs193302864
Varsome	rs193302864
LitVar	rs193302864
Map	rs193302864
PheGenI	rs193302864
Biobank	rs193302864
1000 genomes	rs193302864
hgdp	rs193302864
ensembl	rs193302864
geneview	rs193302864
scholar	rs193302864
google	rs193302864
pharmgkb	rs193302864
gwascentral	rs193302864
openSNP	rs193302864
23andMe	rs193302864
SNPshot	rs193302864
SNPdbe	rs193302864
MSV3d	rs193302864
GWAS Ctlg	rs193302864

Max Magnitude

0

ClinVar
Risk	rs193302864(C;C)
Alt	rs193302864(C;C)
Reference	Rs193302864(A;A)
Significance	Pathogenic
Disease	Autosomal recessive cutis laxa type IA Autosomal recessive cutis laxa type 1B
Variation	info
Gene	EFEMP2
CLNDBN	Autosomal recessive cutis laxa type IA Autosomal recessive cutis laxa type 1B
Reversed	1
HGVS	NC_000011.9:g.65637447T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032272.1, RCV000034873.4,