rs374349989

Orientation

plus

Stabilized

plus

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

Make rs374349989(A;G)

Make rs374349989(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

123699702

Gene

TCTN2

is a	snp
is	mentioned by
dbSNP	rs374349989
dbSNP (classic)	rs374349989
ClinGen	rs374349989
ebi	rs374349989
HLI	rs374349989
Exac	rs374349989
Gnomad	rs374349989
Varsome	rs374349989
LitVar	rs374349989
Map	rs374349989
PheGenI	rs374349989
Biobank	rs374349989
1000 genomes	rs374349989
hgdp	rs374349989
ensembl	rs374349989
geneview	rs374349989
scholar	rs374349989
google	rs374349989
pharmgkb	rs374349989
gwascentral	rs374349989
openSNP	rs374349989
23andMe	rs374349989
SNPshot	rs374349989
SNPdbe	rs374349989
MSV3d	rs374349989
GWAS Ctlg	rs374349989

Max Magnitude

0

ClinVar
Risk	rs374349989(G;G)
Alt	rs374349989(G;G)
Reference	Rs374349989(A;A)
Significance	Pathogenic
Disease	Meckel syndrome type 8 TCTN2-Related Disorders
Variation	info
Gene	TCTN2
CLNDBN	Meckel syndrome type 8 TCTN2-Related Disorders
Reversed	0
HGVS	NC_000012.11:g.124184249A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024072.5, RCV000305893.1,