rs193302869

Orientation

minus

Stabilized

minus

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

Make rs193302869(A;T)

Make rs193302869(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

65870649

Gene

EFEMP2

is a	snp
is	mentioned by
dbSNP	rs193302869
dbSNP (classic)	rs193302869
ClinGen	rs193302869
ebi	rs193302869
HLI	rs193302869
Exac	rs193302869
Gnomad	rs193302869
Varsome	rs193302869
LitVar	rs193302869
Map	rs193302869
PheGenI	rs193302869
Biobank	rs193302869
1000 genomes	rs193302869
hgdp	rs193302869
ensembl	rs193302869
geneview	rs193302869
scholar	rs193302869
google	rs193302869
pharmgkb	rs193302869
gwascentral	rs193302869
openSNP	rs193302869
23andMe	rs193302869
SNPshot	rs193302869
SNPdbe	rs193302869
MSV3d	rs193302869
GWAS Ctlg	rs193302869

Max Magnitude

0

ClinVar
Risk	rs193302869(T;T)
Alt	rs193302869(T;T)
Reference	Rs193302869(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.65638120T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032270.1, RCV000033126.3,