SNP Links for Nucleotide (Select 282721091) - SNP

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Links from Nucleotide

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Select item 14911272861.

rs1491127286 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:1988390 (GRCh38)
16:2038391 (GRCh37)
Canonical SPDI:: NC_000016.10:1988388:ACA:A
Gene:: SYNGR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000016.10:g.1988390_1988391del, NC_000016.9:g.2038391_2038392del, NG_016288.1:g.9242_9243del, NW_025791799.1:g.54538_54539del

Select item 14909488352.

rs1490948835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:1980259 (GRCh38)
16:2030260 (GRCh37)
Canonical SPDI:: NC_000016.10:1980258:G:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1980259G>T, NC_000016.9:g.2030260G>T, NG_016288.1:g.1111G>T, NG_080304.1:g.132G>T, NW_025791799.1:g.46407G>T, NM_006453.3:c.*1574G>T

Select item 14906732553.

rs1490673255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:1979974 (GRCh38)
16:2029975 (GRCh37)
Canonical SPDI:: NC_000016.10:1979973:C:G
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1979974C>G, NC_000016.9:g.2029975C>G, NG_016288.1:g.826C>G, NW_025791799.1:g.46122C>G, NM_006453.3:c.*1289C>G

Select item 14906332254.

rs1490633225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:1979956 (GRCh38)
16:2029957 (GRCh37)
Canonical SPDI:: NC_000016.10:1979955:G:C,NC_000016.10:1979955:G:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.1979956G>C, NC_000016.10:g.1979956G>T, NC_000016.9:g.2029957G>C, NC_000016.9:g.2029957G>T, NG_016288.1:g.808G>C, NG_016288.1:g.808G>T, NW_025791799.1:g.46104G>C, NW_025791799.1:g.46104G>T, NM_006453.3:c.*1271G>C, NM_006453.3:c.*1271G>T

Select item 14905405685.

rs1490540568 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1984768 (GRCh38)
16:2034769 (GRCh37)
Canonical SPDI:: NC_000016.10:1984767:G:A
Gene:: GFER (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.1984768G>A, NC_000016.9:g.2034769G>A, NG_016288.1:g.5620G>A, NM_005262.3:c.280G>A, NM_005262.2:c.280G>A, NW_025791799.1:g.50916G>A, NP_005253.3:p.Asp94Asn

Select item 14904316326.

rs1490431632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1979297 (GRCh38)
16:2029298 (GRCh37)
Canonical SPDI:: NC_000016.10:1979296:G:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1979297G>A, NC_000016.9:g.2029298G>A, NG_016288.1:g.149G>A, NW_025791799.1:g.45445G>A, XM_005255099.6:c.886C>T, XM_005255099.5:c.886C>T, XM_005255099.4:c.886C>T, XM_005255099.3:c.886C>T, XM_005255099.2:c.886C>T, XM_005255099.1:c.886C>T, NM_144603.4:c.868C>T, NM_144603.3:c.868C>T, NM_172168.3:c.886C>T, NM_172168.2:c.886C>T, NM_172167.3:c.871C>T, NM_172167.2:c.871C>T, NM_001267721.2:c.883C>T, NM_001267721.1:c.883C>T, NM_006453.3:c.*612G>A

Select item 14902075417.

rs1490207541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1984516 (GRCh38)
16:2034517 (GRCh37)
Canonical SPDI:: NC_000016.10:1984515:C:T
Gene:: GFER (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.1984516C>T, NC_000016.9:g.2034517C>T, NG_016288.1:g.5368C>T, NW_025791799.1:g.50664C>T

Select item 14901112818.

rs1490111281 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:1985421 (GRCh38)
16:2035422 (GRCh37)
Canonical SPDI:: NC_000016.10:1985420:A:G
Gene:: GFER (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1985421A>G, NC_000016.9:g.2035422A>G, NG_016288.1:g.6273A>G, NW_025791799.1:g.51569A>G

Select item 14895837159.

rs1489583715 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1989453 (GRCh38)
16:2039454 (GRCh37)
Canonical SPDI:: NC_000016.10:1989452:C:T
Gene:: SYNGR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.1989453C>T, NC_000016.9:g.2039454C>T, NG_016288.1:g.10305C>T, NW_025791799.1:g.55601C>T

Select item 148940617110.

rs1489406171 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1980297 (GRCh38)
16:2030298 (GRCh37)
Canonical SPDI:: NC_000016.10:1980296:C:T
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000016.10:g.1980297C>T, NC_000016.9:g.2030298C>T, NG_016288.1:g.1149C>T, NG_080304.1:g.170C>T, NW_025791799.1:g.46445C>T, NM_006453.3:c.*1612C>T

Select item 148930668211.

rs1489306682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:1979554 (GRCh38)
16:2029555 (GRCh37)
Canonical SPDI:: NC_000016.10:1979553:G:A,NC_000016.10:1979553:G:C
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1979554G>A, NC_000016.10:g.1979554G>C, NC_000016.9:g.2029555G>A, NC_000016.9:g.2029555G>C, NG_016288.1:g.406G>A, NG_016288.1:g.406G>C, NW_025791799.1:g.45702G>A, NW_025791799.1:g.45702G>C, NM_006453.3:c.*869G>A, NM_006453.3:c.*869G>C

Select item 148918057812.

rs1489180578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1984227 (GRCh38)
16:2034228 (GRCh37)
Canonical SPDI:: NC_000016.10:1984226:G:A
Gene:: GFER (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000025/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.1984227G>A, NC_000016.9:g.2034228G>A, NG_016288.1:g.5079G>A, NM_005262.3:c.9G>A, NM_005262.2:c.9G>A, NW_025791799.1:g.50375G>A

Select item 148915475213.

rs1489154752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1983065 (GRCh38)
16:2033066 (GRCh37)
Canonical SPDI:: NC_000016.10:1983064:G:A
Gene:: GFER (Varview), TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_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_000016.10:g.1983065G>A, NC_000016.9:g.2033066G>A, NG_016288.1:g.3917G>A, NW_025791799.1:g.49213G>A

Select item 148904393814.

rs1489043938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1988974 (GRCh38)
16:2038975 (GRCh37)
Canonical SPDI:: NC_000016.10:1988973:T:C
Gene:: SYNGR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000087/23 (TOPMED)
HGVS:: NC_000016.10:g.1988974T>C, NC_000016.9:g.2038975T>C, NG_016288.1:g.9826T>C, NW_025791799.1:g.55122T>C

Select item 148895983915.

rs1488959839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:1981506 (GRCh38)
16:2031507 (GRCh37)
Canonical SPDI:: NC_000016.10:1981505:G:A
Gene:: TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000016.10:g.1981506G>A, NC_000016.9:g.2031507G>A, NG_016288.1:g.2358G>A, NW_025791799.1:g.47654G>A, NM_006453.3:c.*2821G>A, NM_144603.3:c.-327C>T, NM_172168.2:c.-327C>T, NM_172167.2:c.-327C>T, NM_001267721.1:c.-327C>T

Select item 148892767716.

rs1488927677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:1983517 (GRCh38)
16:2033518 (GRCh37)
Canonical SPDI:: NC_000016.10:1983516:C:A,NC_000016.10:1983516:C:T
Gene:: GFER (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1983517C>A, NC_000016.10:g.1983517C>T, NC_000016.9:g.2033518C>A, NC_000016.9:g.2033518C>T, NG_016288.1:g.4369C>A, NG_016288.1:g.4369C>T, NW_025791799.1:g.49665C>A, NW_025791799.1:g.49665C>T

Select item 148821935617.

rs1488219356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:1982842 (GRCh38)
16:2032843 (GRCh37)
Canonical SPDI:: NC_000016.10:1982841:C:T
Gene:: GFER (Varview), TBL3 (Varview), NOXO1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.1982842C>T, NC_000016.9:g.2032843C>T, NG_016288.1:g.3694C>T, NW_025791799.1:g.48990C>T, NM_006453.3:c.*4157C>T

Select item 148796233618.

rs1487962336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:1986196 (GRCh38)
16:2036197 (GRCh37)
Canonical SPDI:: NC_000016.10:1986195:T:C
Gene:: GFER (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.1986196T>C, NC_000016.9:g.2036197T>C, NG_016288.1:g.7048T>C, NM_005262.3:c.*168T>C, NM_005262.2:c.*168T>C, NW_025791799.1:g.52344T>C

Select item 148775410119.

rs1487754101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:1989059 (GRCh38)
16:2039060 (GRCh37)
Canonical SPDI:: NC_000016.10:1989058:C:G
Gene:: SYNGR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.1989059C>G, NC_000016.9:g.2039060C>G, NG_016288.1:g.9911C>G, NW_025791799.1:g.55207C>G