rs151344539

Orientation

plus

Stabilized

plus

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

Make rs151344539(-;G)

Make rs151344539(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

120999086

Gene

HNF1A

is a	snp
is	mentioned by
dbSNP	rs151344539
dbSNP (classic)	rs151344539
ClinGen	rs151344539
ebi	rs151344539
HLI	rs151344539
Exac	rs151344539
Gnomad	rs151344539
Varsome	rs151344539
LitVar	rs151344539
Map	rs151344539
PheGenI	rs151344539
Biobank	rs151344539
1000 genomes	rs151344539
hgdp	rs151344539
ensembl	rs151344539
geneview	rs151344539
scholar	rs151344539
google	rs151344539
pharmgkb	rs151344539
gwascentral	rs151344539
openSNP	rs151344539
23andMe	rs151344539
SNPshot	rs151344539
SNPdbe	rs151344539
MSV3d	rs151344539
GWAS Ctlg	rs151344539

Max Magnitude

0

ClinVar
Risk	rs151344539(G;G)
Alt	rs151344539(G;G)
Reference	Rs151344539(;)
Significance	Untested
Disease	Distal spinal muscular atrophy
Variation	info
Gene	HNF1A
CLNDBN	Distal spinal muscular atrophy, autosomal recessive 4
Reversed	0
HGVS	NC_000012.11:g.121436889_121436890insG
CLNSRC	OMIM Allelic Variant
CLNACC	SCV000021224.1, SCV000021224.1, SCV000021224.1, SCV000021224.1,

[PMID 19794065] Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.