rs1060505028

Orientation

plus

Stabilized

plus

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

Make rs1060505028(A;A)

Make rs1060505028(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

3229927

Gene

HTT

is a	snp
is	mentioned by
dbSNP	rs1060505028
dbSNP (classic)	rs1060505028
ClinGen	rs1060505028
ebi	rs1060505028
HLI	rs1060505028
Exac	rs1060505028
Gnomad	rs1060505028
Varsome	rs1060505028
LitVar	rs1060505028
Map	rs1060505028
PheGenI	rs1060505028
Biobank	rs1060505028
1000 genomes	rs1060505028
hgdp	rs1060505028
ensembl	rs1060505028
geneview	rs1060505028
scholar	rs1060505028
google	rs1060505028
pharmgkb	rs1060505028
gwascentral	rs1060505028
openSNP	rs1060505028
23andMe	rs1060505028
SNPshot	rs1060505028
SNPdbe	rs1060505028
MSV3d	rs1060505028
GWAS Ctlg	rs1060505028

Max Magnitude

0

ClinVar
Risk	rs1060505028(A;A)
Alt	rs1060505028(A;A)
Reference	Rs1060505028(T;T)
Significance	Pathogenic
Disease	LOPES-MACIEL-RODAN SYNDROME
Variation	info
Gene	HTT
CLNDBN	LOPES-MACIEL-RODAN SYNDROME
Reversed	0
HGVS	NC_000004.11:g.3231654T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477714.1,