rs724159997

Orientation

minus

Stabilized

minus

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

Make rs724159997(C;T)

Make rs724159997(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

22

Position

50221196

Gene

TUBGCP6

is a	snp
is	mentioned by
dbSNP	rs724159997
dbSNP (classic)	rs724159997
ClinGen	rs724159997
ebi	rs724159997
HLI	rs724159997
Exac	rs724159997
Gnomad	rs724159997
Varsome	rs724159997
LitVar	rs724159997
Map	rs724159997
PheGenI	rs724159997
Biobank	rs724159997
1000 genomes	rs724159997
hgdp	rs724159997
ensembl	rs724159997
geneview	rs724159997
scholar	rs724159997
google	rs724159997
pharmgkb	rs724159997
gwascentral	rs724159997
openSNP	rs724159997
23andMe	rs724159997
SNPshot	rs724159997
SNPdbe	rs724159997
MSV3d	rs724159997
GWAS Ctlg	rs724159997

Max Magnitude

0

ClinVar
Risk	rs724159997(T;T)
Alt	rs724159997(T;T)
Reference	Rs724159997(C;C)
Significance	Pathogenic
Disease	Microcephaly with chorioretinopathy
Variation	info
Gene	TUBGCP6
CLNDBN	Microcephaly with chorioretinopathy, autosomal recessive
Reversed	1
HGVS	NC_000022.10:g.50659625G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000149801.6,