rs1057519645

Orientation

plus

Stabilized

plus

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

Make rs1057519645(A;T)

Make rs1057519645(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

18

Position

2667010

Gene

SMCHD1

is a	snp
is	mentioned by
dbSNP	rs1057519645
dbSNP (classic)	rs1057519645
ClinGen	rs1057519645
ebi	rs1057519645
HLI	rs1057519645
Exac	rs1057519645
Gnomad	rs1057519645
Varsome	rs1057519645
LitVar	rs1057519645
Map	rs1057519645
PheGenI	rs1057519645
Biobank	rs1057519645
1000 genomes	rs1057519645
hgdp	rs1057519645
ensembl	rs1057519645
geneview	rs1057519645
scholar	rs1057519645
google	rs1057519645
pharmgkb	rs1057519645
gwascentral	rs1057519645
openSNP	rs1057519645
23andMe	rs1057519645
SNPshot	rs1057519645
SNPdbe	rs1057519645
MSV3d	rs1057519645
GWAS Ctlg	rs1057519645

Max Magnitude

0

ClinVar
Risk	rs1057519645(T;T)
Alt	rs1057519645(T;T)
Reference	Rs1057519645(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.2667009A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417256.1,