rs104894017

Orientation

minus

Stabilized

minus

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

Make rs104894017(C;G)

Make rs104894017(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

27095829

Gene	HOTAIRM1, HOXA1

is a	snp
is	mentioned by
dbSNP	rs104894017
dbSNP (classic)	rs104894017
ClinGen	rs104894017
ebi	rs104894017
HLI	rs104894017
Exac	rs104894017
Gnomad	rs104894017
Varsome	rs104894017
LitVar	rs104894017
Map	rs104894017
PheGenI	rs104894017
Biobank	rs104894017
1000 genomes	rs104894017
hgdp	rs104894017
ensembl	rs104894017
geneview	rs104894017
scholar	rs104894017
google	rs104894017
pharmgkb	rs104894017
gwascentral	rs104894017
openSNP	rs104894017
23andMe	rs104894017
SNPshot	rs104894017
SNPdbe	rs104894017
MSV3d	rs104894017
GWAS Ctlg	rs104894017

Max Magnitude

0

OMIM	142955
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894017(G;G)
Alt	rs104894017(G;G)
Reference	Rs104894017(C;C)
Significance	Pathogenic
Disease	Bosley-Salih-Alorainy syndrome
Variation	info
Gene	HOXA1 HOTAIRM1
CLNDBN	Bosley-Salih-Alorainy syndrome
Reversed	1
HGVS	NC_000007.13:g.27135448G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016028.25,