rs113994109

Orientation

minus

Stabilized

minus

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

Make rs113994109(A;A)

Make rs113994109(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

110179370

Gene

COL4A1

is a	snp
is	mentioned by
dbSNP	rs113994109
dbSNP (classic)	rs113994109
ClinGen	rs113994109
ebi	rs113994109
HLI	rs113994109
Exac	rs113994109
Gnomad	rs113994109
Varsome	rs113994109
LitVar	rs113994109
Map	rs113994109
PheGenI	rs113994109
Biobank	rs113994109
1000 genomes	rs113994109
hgdp	rs113994109
ensembl	rs113994109
geneview	rs113994109
scholar	rs113994109
google	rs113994109
pharmgkb	rs113994109
gwascentral	rs113994109
openSNP	rs113994109
23andMe	rs113994109
SNPshot	rs113994109
SNPdbe	rs113994109
MSV3d	rs113994109
GWAS Ctlg	rs113994109

Max Magnitude

0

OMIM	120130
Desc
Variant	0002
Related	also

ClinVar
Risk	rs113994109(A;A)
Alt	rs113994109(A;A)
Reference	Rs113994109(G;G)
Significance	Pathogenic
Disease	Porencephaly 1
Variation	info
Gene	COL4A1
CLNDBN	Porencephaly 1
Reversed	1
HGVS	NC_000013.10:g.110831717C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018956.25,