rs397514609

Orientation

minus

Stabilized

minus

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

Make rs397514609(A;A)

Make rs397514609(A;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75556198

Gene

TMEM231

is a	snp
is	mentioned by
dbSNP	rs397514609
dbSNP (classic)	rs397514609
ClinGen	rs397514609
ebi	rs397514609
HLI	rs397514609
Exac	rs397514609
Gnomad	rs397514609
Varsome	rs397514609
LitVar	rs397514609
Map	rs397514609
PheGenI	rs397514609
Biobank	rs397514609
1000 genomes	rs397514609
hgdp	rs397514609
ensembl	rs397514609
geneview	rs397514609
scholar	rs397514609
google	rs397514609
pharmgkb	rs397514609
gwascentral	rs397514609
openSNP	rs397514609
23andMe	rs397514609
SNPshot	rs397514609
SNPdbe	rs397514609
MSV3d	rs397514609
GWAS Ctlg	rs397514609

Max Magnitude

0

ClinVar
Risk	rs397514609(A;A) rs397514609(C;C)
Alt	rs397514609(A;A) rs397514609(C;C)
Reference	Rs397514609(T;T)
Significance	Pathogenic
Disease	Joubert syndrome 20
Variation	info
Gene	TMEM231
CLNDBN	Joubert syndrome 20
Reversed	1
HGVS	NC_000016.9:g.75590096A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033041.2,