rs1057519641

Orientation

plus

Stabilized

plus

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

Make rs1057519641(C;C)

Make rs1057519641(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2667030

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519641
dbSNP (classic)	rs1057519641
ClinGen	rs1057519641
ebi	rs1057519641
HLI	rs1057519641
Exac	rs1057519641
Gnomad	rs1057519641
Varsome	rs1057519641
LitVar	rs1057519641
Map	rs1057519641
PheGenI	rs1057519641
Biobank	rs1057519641
1000 genomes	rs1057519641
hgdp	rs1057519641
ensembl	rs1057519641
geneview	rs1057519641
scholar	rs1057519641
google	rs1057519641
pharmgkb	rs1057519641
gwascentral	rs1057519641
openSNP	rs1057519641
23andMe	rs1057519641
SNPshot	rs1057519641
SNPdbe	rs1057519641
MSV3d	rs1057519641
GWAS Ctlg	rs1057519641

Max Magnitude

0

ClinVar
Risk	rs1057519641(C;C)
Alt	rs1057519641(C;C)
Reference	Rs1057519641(G;G)
Significance	Pathogenic
Disease	Arhinia choanal atresia microphthalmia
Variation	info
Gene	SMCHD1
CLNDBN	Arhinia choanal atresia microphthalmia
Reversed	0
HGVS	NC_000018.9:g.2667029G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417278.1,