rs113994103

Orientation

minus

Stabilized

minus

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

Make rs113994103(A;T)

Make rs113994103(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

110307027

Gene	COL4A1, COL4A2

is a	snp
is	mentioned by
dbSNP	rs113994103
dbSNP (classic)	rs113994103
ClinGen	rs113994103
ebi	rs113994103
HLI	rs113994103
Exac	rs113994103
Gnomad	rs113994103
Varsome	rs113994103
LitVar	rs113994103
Map	rs113994103
PheGenI	rs113994103
Biobank	rs113994103
1000 genomes	rs113994103
hgdp	rs113994103
ensembl	rs113994103
geneview	rs113994103
scholar	rs113994103
google	rs113994103
pharmgkb	rs113994103
gwascentral	rs113994103
openSNP	rs113994103
23andMe	rs113994103
SNPshot	rs113994103
SNPdbe	rs113994103
MSV3d	rs113994103
GWAS Ctlg	rs113994103

Max Magnitude

0

OMIM	120130
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113994103(T;T)
Alt	rs113994103(T;T)
Reference	Rs113994103(A;A)
Significance	Pathogenic
Disease	Porencephaly 1
Variation	info
Gene	COL4A1 COL4A2
CLNDBN	Porencephaly 1
Reversed	1
HGVS	NC_000013.10:g.110959374T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018958.28,