rs768047421

Orientation

plus

Stabilized

plus

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

Make rs768047421(C;T)

Make rs768047421(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

3131647

Gene

HTT

is a	snp
is	mentioned by
dbSNP	rs768047421
dbSNP (classic)	rs768047421
ClinGen	rs768047421
ebi	rs768047421
HLI	rs768047421
Exac	rs768047421
Gnomad	rs768047421
Varsome	rs768047421
LitVar	rs768047421
Map	rs768047421
PheGenI	rs768047421
Biobank	rs768047421
1000 genomes	rs768047421
hgdp	rs768047421
ensembl	rs768047421
geneview	rs768047421
scholar	rs768047421
google	rs768047421
pharmgkb	rs768047421
gwascentral	rs768047421
openSNP	rs768047421
23andMe	rs768047421
SNPshot	rs768047421
SNPdbe	rs768047421
MSV3d	rs768047421
GWAS Ctlg	rs768047421

Max Magnitude

0

ClinVar
Risk	rs768047421(T;T)
Alt	rs768047421(T;T)
Reference	Rs768047421(C;C)
Significance	Pathogenic
Disease	LOPES-MACIEL-RODAN SYNDROME
Variation	info
Gene	HTT
CLNDBN	LOPES-MACIEL-RODAN SYNDROME
Reversed	0
HGVS	NC_000004.11:g.3133374C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000477706.1,