rs796051927

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Unaffected carrier of a possible argininosuccinate lyase mutation
(T;T)	0	common in clinvar

Make rs796051927(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

66092660

Gene

ASL

is a	snp
is	mentioned by
dbSNP	rs796051927
dbSNP (classic)	rs796051927
ClinGen	rs796051927
ebi	rs796051927
HLI	rs796051927
Exac	rs796051927
Gnomad	rs796051927
Varsome	rs796051927
LitVar	rs796051927
Map	rs796051927
PheGenI	rs796051927
Biobank	rs796051927
1000 genomes	rs796051927
hgdp	rs796051927
ensembl	rs796051927
geneview	rs796051927
scholar	rs796051927
google	rs796051927
pharmgkb	rs796051927
gwascentral	rs796051927
openSNP	rs796051927
23andMe	rs796051927
SNPshot	rs796051927
SNPdbe	rs796051927
MSV3d	rs796051927
GWAS Ctlg	rs796051927

Max Magnitude

3

c.1247T>C, p.Ile416Thr or I416T

ClinVar
Risk	rs796051927(C;C)
Alt	rs796051927(C;C)
Reference	Rs796051927(T;T)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	ASL
CLNDBN	not provided
Reversed	0
HGVS	NC_000007.13:g.65557647T>C
CLNSRC
CLNACC	RCV000185771.1,