SNP Links for Protein (Select 544346313) - SNP

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:30695079 (GRCh38)
22:31091066 (GRCh37)
Canonical SPDI:: NC_000022.11:30695078:T:G
Gene:: OSBP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.30695079T>G, NC_000022.10:g.31091066T>G, NM_030758.4:c.170T>G, NM_030758.3:c.170T>G, NM_001282739.2:c.170T>G, NM_001282739.1:c.170T>G, NM_001003812.1:c.170T>G, NP_110385.1:p.Val57Gly, NP_001269668.1:p.Val57Gly

Select item 14856135338.

rs1485613533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:30893670 (GRCh38)
22:31289657 (GRCh37)
Canonical SPDI:: NC_000022.11:30893669:C:G,NC_000022.11:30893669:C:T
Gene:: OSBP2 (Varview), LOC107985544 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30893670C>G, NC_000022.11:g.30893670C>T, NC_000022.10:g.31289657C>G, NC_000022.10:g.31289657C>T, NM_030758.4:c.2127C>G, NM_030758.4:c.2127C>T, NM_030758.3:c.2127C>G, NM_030758.3:c.2127C>T, NM_001282739.2:c.2124C>G, NM_001282739.2:c.2124C>T, NM_001282739.1:c.2124C>G, NM_001282739.1:c.2124C>T, NM_001282738.2:c.1629C>G, NM_001282738.2:c.1629C>T, NM_001282738.1:c.1629C>G, NM_001282738.1:c.1629C>T, NM_001282741.2:c.1353C>G, NM_001282741.2:c.1353C>T, NM_001282741.1:c.1353C>G, NM_001282741.1:c.1353C>T, NM_001282740.2:c.1026C>G, NM_001282740.2:c.1026C>T, NM_001282740.1:c.1026C>G, NM_001282740.1:c.1026C>T, NM_001282742.2:c.759C>G, NM_001282742.2:c.759C>T, NM_001282742.1:c.759C>G, NM_001282742.1:c.759C>T, NM_001003812.1:c.2127C>G, NM_001003812.1:c.2127C>T

Select item 14833969409.

rs1483396940 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30694993 (GRCh38)
22:31090980 (GRCh37)
Canonical SPDI:: NC_000022.11:30694992:C:T
Gene:: OSBP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.30694993C>T, NC_000022.10:g.31090980C>T, NM_030758.4:c.84C>T, NM_030758.3:c.84C>T, NM_001282739.2:c.84C>T, NM_001282739.1:c.84C>T, NM_001003812.1:c.84C>T

Select item 148297299610.

rs1482972996 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:30870477 (GRCh38)
22:31266464 (GRCh37)
Canonical SPDI:: NC_000022.11:30870475:GAG:G
Gene:: OSBP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.30870477_30870478del, NC_000022.10:g.31266464_31266465del, NM_030758.4:c.902_903del, NM_030758.3:c.902_903del, NM_001282739.2:c.902_903del, NM_001282739.1:c.902_903del, NM_001282738.2:c.407_408del, NM_001282738.1:c.407_408del, NM_001282741.2:c.128_129del, NM_001282741.1:c.128_129del, NM_001282740.2:c.-197_-196del, NM_001282740.1:c.-197_-196del, NM_001003812.1:c.902_903del, NP_110385.1:p.Glu301fs, NP_001269668.1:p.Glu301fs, NP_001269667.1:p.Glu136fs, NP_001269670.1:p.Glu43fs

Select item 148268392211.

rs1482683922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:30889536 (GRCh38)
22:31285523 (GRCh37)
Canonical SPDI:: NC_000022.11:30889535:A:G
Gene:: OSBP2 (Varview), LOC107985544 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.30889536A>G, NC_000022.10:g.31285523A>G, NM_030758.4:c.1523A>G, NM_030758.3:c.1523A>G, NM_001282739.2:c.1520A>G, NM_001282739.1:c.1520A>G, NM_001282738.2:c.1025A>G, NM_001282738.1:c.1025A>G, NM_001282741.2:c.749A>G, NM_001282741.1:c.749A>G, NM_001282740.2:c.422A>G, NM_001282740.1:c.422A>G, NM_001282742.2:c.155A>G, NM_001282742.1:c.155A>G, NR_146603.1:n.981T>C, NM_001003812.1:c.1523A>G, NP_110385.1:p.Lys508Arg, NP_001269668.1:p.Lys507Arg, NP_001269667.1:p.Lys342Arg, NP_001269670.1:p.Lys250Arg, NP_001269669.1:p.Lys141Arg, NP_001269671.1:p.Lys52Arg

Select item 148049159212.

rs1480491592 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:30695076 (GRCh38)
22:31091063 (GRCh37)
Canonical SPDI:: NC_000022.11:30695075:C:T
Gene:: OSBP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.30695076C>T, NC_000022.10:g.31091063C>T, NM_030758.4:c.167C>T, NM_030758.3:c.167C>T, NM_001282739.2:c.167C>T, NM_001282739.1:c.167C>T, NM_001003812.1:c.167C>T, NP_110385.1:p.Pro56Leu, NP_001269668.1:p.Pro56Leu