rs397514753

Orientation

minus

Stabilized

minus

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

Make rs397514753(A;A)

Make rs397514753(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75542602

Gene

TMEM231

is a	snp
is	mentioned by
dbSNP	rs397514753
dbSNP (classic)	rs397514753
ClinGen	rs397514753
ebi	rs397514753
HLI	rs397514753
Exac	rs397514753
Gnomad	rs397514753
Varsome	rs397514753
LitVar	rs397514753
Map	rs397514753
PheGenI	rs397514753
Biobank	rs397514753
1000 genomes	rs397514753
hgdp	rs397514753
ensembl	rs397514753
geneview	rs397514753
scholar	rs397514753
google	rs397514753
pharmgkb	rs397514753
gwascentral	rs397514753
openSNP	rs397514753
23andMe	rs397514753
SNPshot	rs397514753
SNPdbe	rs397514753
MSV3d	rs397514753
GWAS Ctlg	rs397514753

Max Magnitude

0

ClinVar
Risk	rs397514753(A;A)
Alt	rs397514753(A;A)
Reference	Rs397514753(G;G)
Significance	Pathogenic
Disease	Meckel syndrome Meckel-Gruber syndrome
Variation	info
Gene	TMEM231
CLNDBN	Meckel syndrome, type 11 Meckel-Gruber syndrome
Reversed	1
HGVS	NC_000016.9:g.75576500C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054806.2, RCV000162154.1,