rs1057519640

Orientation

plus

Stabilized

plus

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

Make rs1057519640(A;G)

Make rs1057519640(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2697034

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519640
dbSNP (classic)	rs1057519640
ClinGen	rs1057519640
ebi	rs1057519640
HLI	rs1057519640
Exac	rs1057519640
Gnomad	rs1057519640
Varsome	rs1057519640
LitVar	rs1057519640
Map	rs1057519640
PheGenI	rs1057519640
Biobank	rs1057519640
1000 genomes	rs1057519640
hgdp	rs1057519640
ensembl	rs1057519640
geneview	rs1057519640
scholar	rs1057519640
google	rs1057519640
pharmgkb	rs1057519640
gwascentral	rs1057519640
openSNP	rs1057519640
23andMe	rs1057519640
SNPshot	rs1057519640
SNPdbe	rs1057519640
MSV3d	rs1057519640
GWAS Ctlg	rs1057519640

Max Magnitude

0

ClinVar
Risk	rs1057519640(G;G)
Alt	rs1057519640(G;G)
Reference	Rs1057519640(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.2697032A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417236.1,