rs104894232

Orientation

plus

Stabilized

plus

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

Make rs104894232(A;G)

Make rs104894232(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

125900000

Gene	HYLS1, PUS3

is a	snp
is	mentioned by
dbSNP	rs104894232
dbSNP (classic)	rs104894232
ClinGen	rs104894232
ebi	rs104894232
HLI	rs104894232
Exac	rs104894232
Gnomad	rs104894232
Varsome	rs104894232
LitVar	rs104894232
Map	rs104894232
PheGenI	rs104894232
Biobank	rs104894232
1000 genomes	rs104894232
hgdp	rs104894232
ensembl	rs104894232
geneview	rs104894232
scholar	rs104894232
google	rs104894232
pharmgkb	rs104894232
gwascentral	rs104894232
openSNP	rs104894232
23andMe	rs104894232
SNPshot	rs104894232
SNPdbe	rs104894232
MSV3d	rs104894232
GWAS Ctlg	rs104894232

GMAF

0.001377

Max Magnitude

0

OMIM	610693
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894232(G;G)
Alt	rs104894232(G;G)
Reference	Rs104894232(A;A)
Significance	Pathogenic
Disease	Hydrolethalus syndrome Hydrolethalus syndrome 1
Variation	info
Gene	PUS3 HYLS1
CLNDBN	Hydrolethalus syndrome Hydrolethalus syndrome 1
Reversed	0
HGVS	NC_000011.9:g.125769895A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001202.2, RCV000454127.1,