rs1057518978

Orientation

minus

Stabilized

minus

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

Make rs1057518978(-;A)

Make rs1057518978(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

50892395

Gene

ADNP

is a	snp
is	mentioned by
dbSNP	rs1057518978
dbSNP (classic)	rs1057518978
ClinGen	rs1057518978
ebi	rs1057518978
HLI	rs1057518978
Exac	rs1057518978
Gnomad	rs1057518978
Varsome	rs1057518978
LitVar	rs1057518978
Map	rs1057518978
PheGenI	rs1057518978
Biobank	rs1057518978
1000 genomes	rs1057518978
hgdp	rs1057518978
ensembl	rs1057518978
geneview	rs1057518978
scholar	rs1057518978
google	rs1057518978
pharmgkb	rs1057518978
gwascentral	rs1057518978
openSNP	rs1057518978
23andMe	rs1057518978
SNPshot	rs1057518978
SNPdbe	rs1057518978
MSV3d	rs1057518978
GWAS Ctlg	rs1057518978

Max Magnitude

0

ClinVar
Risk	rs1057518978(A;A)
Alt	rs1057518978(A;A)
Reference	Rs1057518978(-;-)
Significance	Pathogenic
Disease	Helsmoortel-van der aa syndrome
Variation	info
Gene	ADNP
CLNDBN	Helsmoortel-van der aa syndrome
Reversed	1
HGVS	NC_000020.10:g.49508933dupT
CLNSRC
CLNACC	RCV000414810.1,