SNP Links for Protein (Select 544346317) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:30822664 (GRCh38)
22:31218651 (GRCh37)
Canonical SPDI:: NC_000022.11:30822663:G:A
Gene:: OSBP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000022.11:g.30822664G>A, NC_000022.10:g.31218651G>A, NM_001282741.2:c.34G>A, NM_001282741.1:c.34G>A, NP_001269670.1:p.Val12Met

Select item 146997175418.

rs1469971754 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:30893464 (GRCh38)
22:31289451 (GRCh37)
Canonical SPDI:: NC_000022.11:30893463:T:G
Gene:: OSBP2 (Varview), LOC107985544 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000022.11:g.30893464T>G, NC_000022.10:g.31289451T>G, NM_030758.4:c.1992T>G, NM_030758.3:c.1992T>G, NM_001282739.2:c.1989T>G, NM_001282739.1:c.1989T>G, NM_001282738.2:c.1494T>G, NM_001282738.1:c.1494T>G, NM_001282741.2:c.1218T>G, NM_001282741.1:c.1218T>G, NM_001282740.2:c.891T>G, NM_001282740.1:c.891T>G, NM_001282742.2:c.624T>G, NM_001282742.1:c.624T>G, NM_001003812.1:c.1992T>G

Select item 146889417019.

rs1468894170 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGGACGA [Show Flanks]
Chromosome:: 22:30905960 (GRCh38)
22:31301948 (GRCh37)
Canonical SPDI:: NC_000022.11:30905960:TGGGACGA:TGGGACGATGGGACGA
Gene:: OSBP2 (Varview), LOC107985544 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGGACGATGGGACGA=0./0 (ALFA)
TGGGACGA=0.000004/1 (TOPMED)
TGGGACGA=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30905961_30905968dup, NC_000022.10:g.31301948_31301955dup, NM_030758.4:c.2500_2507dup, NM_030758.3:c.2500_2507dup, NM_001282739.2:c.2497_2504dup, NM_001282739.1:c.2497_2504dup, NM_001282738.2:c.2002_2009dup, NM_001282738.1:c.2002_2009dup, NM_001282741.2:c.1726_1733dup, NM_001282741.1:c.1726_1733dup, NM_001282740.2:c.1399_1406dup, NM_001282740.1:c.1399_1406dup, NM_001282742.2:c.1132_1139dup, NM_001282742.1:c.1132_1139dup, NM_001003812.1:c.2315_2322dup, NP_110385.1:p.Glu836fs, NP_001269668.1:p.Glu835fs, NP_001269667.1:p.Glu670fs, NP_001269670.1:p.Glu578fs, NP_001269669.1:p.Glu469fs, NP_001269671.1:p.Glu380fs

Select item 146582973020.

rs1465829730 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30893972 (GRCh38)
22:31289959 (GRCh37)
Canonical SPDI:: NC_000022.11:30893971:C:T
Gene:: OSBP2 (Varview), LOC107985544 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.30893972C>T, NC_000022.10:g.31289959C>T, NM_030758.4:c.2346C>T, NM_030758.3:c.2346C>T, NM_001282739.2:c.2343C>T, NM_001282739.1:c.2343C>T, NM_001282738.2:c.1848C>T, NM_001282738.1:c.1848C>T, NM_001282741.2:c.1572C>T, NM_001282741.1:c.1572C>T, NM_001282740.2:c.1245C>T, NM_001282740.1:c.1245C>T, NM_001282742.2:c.978C>T, NM_001282742.1:c.978C>T

dbSNP