rs113994150

Orientation

plus

Stabilized

plus

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

Make rs113994150(C;T)

Make rs113994150(T;T)

Reference

GRCh37.p2 37.2/134

Chromosome

19

Position

54191536

Gene	MBOAT7, TSEN34

is a	snp
is	mentioned by
dbSNP	rs113994150
dbSNP (classic)	rs113994150
ClinGen	rs113994150
ebi	rs113994150
HLI	rs113994150
Exac	rs113994150
Gnomad	rs113994150
Varsome	rs113994150
LitVar	rs113994150
Map	rs113994150
PheGenI	rs113994150
Biobank	rs113994150
1000 genomes	rs113994150
hgdp	rs113994150
ensembl	rs113994150
geneview	rs113994150
scholar	rs113994150
google	rs113994150
pharmgkb	rs113994150
gwascentral	rs113994150
openSNP	rs113994150
23andMe	rs113994150
SNPshot	rs113994150
SNPdbe	rs113994150
MSV3d	rs113994150
GWAS Ctlg	rs113994150

Max Magnitude

0

OMIM	608754
Desc
Variant	0001
Related	also

ClinVar
Risk	rs113994150(T;T)
Alt	rs113994150(T;T)
Reference	Rs113994150(C;C)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 2C
Variation	info
Gene	MBOAT7 TSEN34
CLNDBN	Pontocerebellar hypoplasia type 2C
Reversed	0
HGVS	NC_000019.9:g.54695387C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002206.3,