rs121434515

Orientation

plus

Stabilized

plus

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

Make rs121434515(G;T)

Make rs121434515(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

68989082

Gene

KIF1BP

is a	snp
is	mentioned by
dbSNP	rs121434515
dbSNP (classic)	rs121434515
ClinGen	rs121434515
ebi	rs121434515
HLI	rs121434515
Exac	rs121434515
Gnomad	rs121434515
Varsome	rs121434515
LitVar	rs121434515
Map	rs121434515
PheGenI	rs121434515
Biobank	rs121434515
1000 genomes	rs121434515
hgdp	rs121434515
ensembl	rs121434515
geneview	rs121434515
scholar	rs121434515
google	rs121434515
pharmgkb	rs121434515
gwascentral	rs121434515
openSNP	rs121434515
23andMe	rs121434515
SNPshot	rs121434515
SNPdbe	rs121434515
MSV3d	rs121434515
GWAS Ctlg	rs121434515

Max Magnitude

0

OMIM	609367
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434515(T;T)
Alt	rs121434515(T;T)
Reference	Rs121434515(G;G)
Significance	Pathogenic
Disease	Shprintzen-Goldberg syndrome
Variation	info
Gene	KIF1BP
CLNDBN	Shprintzen-Goldberg syndrome
Reversed	0
HGVS	NC_000010.10:g.70748838G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001804.3,