SNP Links for Gene (Select 84727) - SNP

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Items: 1 to 20 of 1316

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Select item 14907632341.

rs1490763234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6873869 (GRCh38)
12:6983033 (GRCh37)
Canonical SPDI:: NC_000012.12:6873868:G:C
Gene:: SPSB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6873869G>C, NC_000012.11:g.6983033G>C, NG_013308.1:g.4489C>G, NW_003871083.2:g.75453G>C

Select item 14905491182.

rs1490549118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6873217 (GRCh38)
12:6982381 (GRCh37)
Canonical SPDI:: NC_000012.12:6873216:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.6873217G>A, NC_000012.11:g.6982381G>A, NG_013308.1:g.5141C>T, NM_001319670.2:c.-316C>T, NM_001319670.1:c.-316C>T, NM_001146316.2:c.-88C>T, NM_001146316.1:c.-88C>T, NW_003871083.2:g.74801G>A

Select item 14902711283.

rs1490271128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:6873496 (GRCh38)
12:6982660 (GRCh37)
Canonical SPDI:: NC_000012.12:6873495:T:C
Gene:: SPSB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6873496T>C, NC_000012.11:g.6982660T>C, NG_013308.1:g.4862A>G, NW_003871083.2:g.75080T>C

Select item 14900566884.

rs1490056688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6872849 (GRCh38)
12:6982013 (GRCh37)
Canonical SPDI:: NC_000012.12:6872848:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6872849G>A, NC_000012.11:g.6982013G>A, NG_011948.1:g.10430G>A, NG_013308.1:g.5509C>T, NM_032641.4:c.53C>T, NM_032641.3:c.53C>T, NM_001319670.2:c.53C>T, NM_001319670.1:c.53C>T, NM_001146316.2:c.53C>T, NM_001146316.1:c.53C>T, NW_003871083.2:g.74433G>A, NM_001146317.1:c.53C>T, NP_116030.1:p.Ala18Val, NP_001306599.1:p.Ala18Val, NP_001139788.1:p.Ala18Val

Select item 14892939885.

rs1489293988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6871561 (GRCh38)
12:6980725 (GRCh37)
Canonical SPDI:: NC_000012.12:6871560:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.6871561G>A, NC_000012.11:g.6980725G>A, NG_011948.1:g.9142G>A, NG_013308.1:g.6797C>T, NW_003871083.2:g.73145G>A

Select item 14889357946.

rs1488935794 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6871460 (GRCh38)
12:6980624 (GRCh37)
Canonical SPDI:: NC_000012.12:6871459:C:T
Gene:: SPSB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6871460C>T, NC_000012.11:g.6980624C>T, NG_011948.1:g.9041C>T, NG_013308.1:g.6898G>A, NW_003871083.2:g.73044C>T

Select item 14888270467.

rs1488827046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:6872391 (GRCh38)
12:6981555 (GRCh37)
Canonical SPDI:: NC_000012.12:6872390:G:C
Gene:: SPSB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6872391G>C, NC_000012.11:g.6981555G>C, NG_011948.1:g.9972G>C, NG_013308.1:g.5967C>G, NM_032641.4:c.511C>G, NM_032641.3:c.511C>G, NM_001319670.2:c.511C>G, NM_001319670.1:c.511C>G, NM_001146316.2:c.511C>G, NM_001146316.1:c.511C>G, NW_003871083.2:g.73975G>C, NM_001146317.1:c.511C>G, NP_116030.1:p.Leu171Val, NP_001306599.1:p.Leu171Val, NP_001139788.1:p.Leu171Val

Select item 14883672978.

rs1488367297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6872069 (GRCh38)
12:6981233 (GRCh37)
Canonical SPDI:: NC_000012.12:6872068:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.6872069G>A, NC_000012.11:g.6981233G>A, NG_011948.1:g.9650G>A, NG_013308.1:g.6289C>T, NW_003871083.2:g.73653G>A, NM_001146317.1:c.*29C>T

Select item 14883116539.

rs1488311653 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:6871129 (GRCh38)
12:6980293 (GRCh37)
Canonical SPDI:: NC_000012.12:6871128:CCCC:CCC
Gene:: TPI1 (Varview), SPSB2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6871132del, NC_000012.11:g.6980296del, NG_011948.1:g.8713del, NG_013308.1:g.7229del, NM_032641.4:c.*63del, NM_032641.3:c.*63del, NM_001319670.2:c.*63del, NM_001319670.1:c.*63del, NM_001146316.2:c.*63del, NM_001146316.1:c.*63del, NW_003871083.2:g.72716del

Select item 148738368110.

rs1487383681 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6871672 (GRCh38)
12:6980836 (GRCh37)
Canonical SPDI:: NC_000012.12:6871671:C:T
Gene:: SPSB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6871672C>T, NC_000012.11:g.6980836C>T, NG_011948.1:g.9253C>T, NG_013308.1:g.6686G>A, NW_003871083.2:g.73256C>T, NM_001146317.1:c.*426G>A

Select item 148735489211.

rs1487354892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6873236 (GRCh38)
12:6982400 (GRCh37)
Canonical SPDI:: NC_000012.12:6873235:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.6873236G>A, NC_000012.11:g.6982400G>A, NG_013308.1:g.5122C>T, NM_001319670.2:c.-335C>T, NM_001319670.1:c.-335C>T, NM_001146316.2:c.-107C>T, NM_001146316.1:c.-107C>T, NW_003871083.2:g.74820G>A

Select item 148733231012.

rs1487332310 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:6870901 (GRCh38)
12:6980065 (GRCh37)
Canonical SPDI:: NC_000012.12:6870900:A:G
Gene:: TPI1 (Varview), SPSB2 (Varview)
Functional Consequence:: downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000015/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.6870901A>G, NC_000012.11:g.6980065A>G, NG_011948.1:g.8482A>G, NM_000365.6:c.*518A>G, NM_000365.5:c.*518A>G, NM_001258026.2:c.*518A>G, NM_001258026.1:c.*518A>G, NM_001159287.1:c.*518A>G, NG_013308.1:g.7457T>C, NW_003871083.2:g.72485A>G, NR_027483.1:n.1549A>G

Select item 148453429313.

rs1484534293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6872137 (GRCh38)
12:6981301 (GRCh37)
Canonical SPDI:: NC_000012.12:6872136:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.6872137G>A, NC_000012.11:g.6981301G>A, NG_011948.1:g.9718G>A, NG_013308.1:g.6221C>T, NW_003871083.2:g.73721G>A, NM_001146317.1:c.765C>T

Select item 148235985214.

rs1482359852 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:6873425 (GRCh38)
12:6982589 (GRCh37)
Canonical SPDI:: NC_000012.12:6873424:G:A
Gene:: SPSB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6873425G>A, NC_000012.11:g.6982589G>A, NG_013308.1:g.4933C>T, NW_003871083.2:g.75009G>A

Select item 148228329615.

rs1482283296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:6873679 (GRCh38)
12:6982843 (GRCh37)
Canonical SPDI:: NC_000012.12:6873678:T:A,NC_000012.12:6873678:T:C
Gene:: SPSB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.6873679T>A, NC_000012.12:g.6873679T>C, NC_000012.11:g.6982843T>A, NC_000012.11:g.6982843T>C, NG_013308.1:g.4679A>T, NG_013308.1:g.4679A>G, NW_003871083.2:g.75263T>A, NW_003871083.2:g.75263T>C

Select item 148224669816.

rs1482246698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6874351 (GRCh38)
12:6983515 (GRCh37)
Canonical SPDI:: NC_000012.12:6874350:G:A,NC_000012.12:6874350:G:C
Gene:: SPSB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6874351G>A, NC_000012.12:g.6874351G>C, NC_000012.11:g.6983515G>A, NC_000012.11:g.6983515G>C, NG_013308.1:g.4007C>T, NG_013308.1:g.4007C>G, NW_003871083.2:g.75935G>A, NW_003871083.2:g.75935G>C

Select item 148190023017.

rs1481900230 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGCT [Show Flanks]
Chromosome:: 12:6874262 (GRCh38)
12:6983427 (GRCh37)
Canonical SPDI:: NC_000012.12:6874262:CAGCT:CAGCTCAGCT
Gene:: SPSB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CAGCTCAGCT=0./0 (ALFA)
CAGCT=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.6874263_6874267dup, NC_000012.11:g.6983427_6983431dup, NG_013308.1:g.4091_4095dup, NW_003871083.2:g.75847_75851dup

Select item 148137597018.

rs1481375970 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:6873990 (GRCh38)
12:6983154 (GRCh37)
Canonical SPDI:: NC_000012.12:6873989:C:A
Gene:: SPSB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6873990C>A, NC_000012.11:g.6983154C>A, NG_013308.1:g.4368G>T, NW_003871083.2:g.75574C>A

Select item 148039392119.

rs1480393921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:6873546 (GRCh38)
12:6982710 (GRCh37)
Canonical SPDI:: NC_000012.12:6873545:G:A,NC_000012.12:6873545:G:C
Gene:: SPSB2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.6873546G>A, NC_000012.12:g.6873546G>C, NC_000012.11:g.6982710G>A, NC_000012.11:g.6982710G>C, NG_013308.1:g.4812C>T, NG_013308.1:g.4812C>G, NW_003871083.2:g.75130G>A, NW_003871083.2:g.75130G>C

Select item 148031980720.

rs1480319807 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:6873135 (GRCh38)
12:6982299 (GRCh37)
Canonical SPDI:: NC_000012.12:6873134:C:T
Gene:: SPSB2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.6873135C>T, NC_000012.11:g.6982299C>T, NG_013308.1:g.5223G>A, NM_001319670.2:c.-234G>A, NM_001319670.1:c.-234G>A, NW_003871083.2:g.74719C>T

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