rs35583475

plus

Geno	Mag	Summary
(A;G)	1	Likely to be a benign polymorphism
(G;G)	0	common in clinvar
(G;T)	3	Carrier of an Andermann syndrome mutation

Make rs35583475(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

34254503

Gene

SLC12A6

is a	snp
is	mentioned by
dbSNP	rs35583475
dbSNP (classic)	rs35583475
ClinGen	rs35583475
ebi	rs35583475
HLI	rs35583475
Exac	rs35583475
Gnomad	rs35583475
Varsome	rs35583475
LitVar	rs35583475
Map	rs35583475
PheGenI	rs35583475
Biobank	rs35583475
1000 genomes	rs35583475
hgdp	rs35583475
ensembl	rs35583475
geneview	rs35583475
scholar	rs35583475
google	rs35583475
pharmgkb	rs35583475
gwascentral	rs35583475
openSNP	rs35583475
23andMe	rs35583475
SNPshot	rs35583475
SNPdbe	rs35583475
MSV3d	rs35583475
GWAS Ctlg	rs35583475

Max Magnitude

3

aka c.963C>A (p.Tyr321Ter or Y321X) and also c.963C>T (p.Tyr321=); the latter is annotated in ClinVar as likely to be benign, while the former has been reported as likely to be pathogenic for Andermann syndrome, a recessively inherited disorder.

Note that the ref and alt alleles that are tested by both Ancestry and 23andMe are G and A, respectively, which means they represent the benign c.963C>T variant, since the alleles are reported by these companies based on the forward/plus strand, whereas the cDNA for the SLC12A6 gene is reported on the reverse/minus strand.

ClinVar
Risk	rs35583475(A;A) rs35583475(T;T)
Alt	rs35583475(A;A) rs35583475(T;T)
Reference	Rs35583475(G;G)
Significance	Probable-Pathogenic
Disease	not specified Andermann syndrome
Variation	info
Gene	SLC12A6
CLNDBN	not specified Andermann syndrome
Reversed	0
HGVS	NC_000015.9:g.34546704G>A; NC_000015.9:g.34546704G>T
CLNSRC
CLNACC	RCV000147490.2, RCV000401210.1, RCV000409555.1,