rs869025338

Orientation

minus

Stabilized

minus

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

Make rs869025338(-;CTGGAGTCCCAGG)

Make rs869025338(CTGGAGTCCCAGG;CTGGAGTCCCAGG)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

13657442

Gene

FRMD4A

is a	snp
is	mentioned by
dbSNP	rs869025338
dbSNP (classic)	rs869025338
ClinGen	rs869025338
ebi	rs869025338
HLI	rs869025338
Exac	rs869025338
Gnomad	rs869025338
Varsome	rs869025338
LitVar	rs869025338
Map	rs869025338
PheGenI	rs869025338
Biobank	rs869025338
1000 genomes	rs869025338
hgdp	rs869025338
ensembl	rs869025338
geneview	rs869025338
scholar	rs869025338
google	rs869025338
pharmgkb	rs869025338
gwascentral	rs869025338
openSNP	rs869025338
23andMe	rs869025338
SNPshot	rs869025338
SNPdbe	rs869025338
MSV3d	rs869025338
GWAS Ctlg	rs869025338

Max Magnitude

0

FRMD4A c.2133_2145dup13

ClinVar
Risk	rs869025338(CTGGAGTCCCAGG;CTGGAGTCCCAGG)
Alt	rs869025338(CTGGAGTCCCAGG;CTGGAGTCCCAGG)
Reference	Rs869025338(-;-)
Significance	Pathogenic
Disease	Corpus callosum
Variation	info
Gene	FRMD4A
CLNDBN	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
Reversed	1
HGVS	NC_000010.10:g.13699443_13699455dupCCTGGGACTCCAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207507.2,