rs1057519643

Orientation

plus

Stabilized

plus

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

Make rs1057519643(A;C)

Make rs1057519643(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2667015

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519643
dbSNP (classic)	rs1057519643
ClinGen	rs1057519643
ebi	rs1057519643
HLI	rs1057519643
Exac	rs1057519643
Gnomad	rs1057519643
Varsome	rs1057519643
LitVar	rs1057519643
Map	rs1057519643
PheGenI	rs1057519643
Biobank	rs1057519643
1000 genomes	rs1057519643
hgdp	rs1057519643
ensembl	rs1057519643
geneview	rs1057519643
scholar	rs1057519643
google	rs1057519643
pharmgkb	rs1057519643
gwascentral	rs1057519643
openSNP	rs1057519643
23andMe	rs1057519643
SNPshot	rs1057519643
SNPdbe	rs1057519643
MSV3d	rs1057519643
GWAS Ctlg	rs1057519643

Max Magnitude

0

ClinVar
Risk	rs1057519643(C;C)
Alt	rs1057519643(C;C)
Reference	Rs1057519643(A;A)
Significance	Pathogenic
Disease	Arhinia choanal atresia microphthalmia
Variation	info
Gene	SMCHD1
CLNDBN	Arhinia choanal atresia microphthalmia
Reversed	0
HGVS	NC_000018.9:g.2667014A>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417233.1,