SNP Links for Gene (Select 121340) - SNP

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Select item 14914884951.

rs1491488495 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:53334331 (GRCh38)
12:53728115 (GRCh37)
Canonical SPDI:: NC_000012.12:53334330:TA:
Gene:: SP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53334331_53334332del, NC_000012.11:g.53728115_53728116del, NG_023391.2:g.15462_15463del, NW_025791795.1:g.58081_58082del

Select item 14913297112.

rs1491329711 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC [Show Flanks]
Chromosome:: 12:53334331 (GRCh38)
12:53728116 (GRCh37)
Canonical SPDI:: NC_000012.12:53334331:AC:ACGCAC
Gene:: SP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACGCAC=0./0 (ALFA)
ACGC=0.000016/2 (GnomAD)
HGVS:: NC_000012.12:g.53334333_53334334insGCAC, NC_000012.11:g.53728117_53728118insGCAC, NG_023391.2:g.15462_15463insGCGT, NW_025791795.1:g.58083_58084insGCAC

Select item 14909001253.

rs1490900125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53341277 (GRCh38)
12:53735061 (GRCh37)
Canonical SPDI:: NC_000012.12:53341276:G:T
Gene:: SP7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53341277G>T, NC_000012.11:g.53735061G>T, NG_023391.2:g.8517C>A, NW_025791795.1:g.65027G>T

Select item 14908776824.

rs1490877682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53326825 (GRCh38)
12:53720609 (GRCh37)
Canonical SPDI:: NC_000012.12:53326824:C:T
Gene:: SP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53326825C>T, NC_000012.11:g.53720609C>T, NG_023391.2:g.22969G>A, NM_001173467.3:c.*1321G>A, NM_001173467.2:c.*1321G>A, NM_001173467.1:c.*1321G>A, NM_001300837.2:c.*1321G>A, NM_001300837.1:c.*1321G>A, NM_152860.2:c.*1321G>A, NM_152860.1:c.*1321G>A, NW_025791795.1:g.50575C>T

Select item 14907448095.

rs1490744809 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53333377 (GRCh38)
12:53727161 (GRCh37)
Canonical SPDI:: NC_000012.12:53333376:T:C
Gene:: SP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.53333377T>C, NC_000012.11:g.53727161T>C, NG_023391.2:g.16417A>G, NW_025791795.1:g.57127T>C

Select item 14906962736.

rs1490696273 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 12:53334371 (GRCh38)
12:53728156 (GRCh37)
Canonical SPDI:: NC_000012.12:53334371:A:AGA
Gene:: SP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
AG=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.53334372_53334373insGA, NC_000012.11:g.53728156_53728157insGA, NG_023391.2:g.15422_15423insCT, NW_025791795.1:g.58122_58123insGA

Select item 14904392007.

rs1490439200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53340344 (GRCh38)
12:53734128 (GRCh37)
Canonical SPDI:: NC_000012.12:53340343:C:T
Gene:: SP7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53340344C>T, NC_000012.11:g.53734128C>T, NG_023391.2:g.9450G>A, NW_025791795.1:g.64094C>T

Select item 14899951168.

rs1489995116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53331750 (GRCh38)
12:53725534 (GRCh37)
Canonical SPDI:: NC_000012.12:53331749:G:A
Gene:: SP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53331750G>A, NC_000012.11:g.53725534G>A, NG_023391.2:g.18044C>T, NW_025791795.1:g.55500G>A

Select item 14897352889.

rs1489735288 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53329527 (GRCh38)
12:53723311 (GRCh37)
Canonical SPDI:: NC_000012.12:53329526:G:T
Gene:: SP7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53329527G>T, NC_000012.11:g.53723311G>T, NG_023391.2:g.20267C>A, NW_025791795.1:g.53277G>T

Select item 148972398410.

rs1489723984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53346435 (GRCh38)
12:53740219 (GRCh37)
Canonical SPDI:: NC_000012.12:53346434:C:T
Gene:: SP7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53346435C>T, NC_000012.11:g.53740219C>T, NG_023391.2:g.3359G>A, NW_025791795.1:g.70185C>T

Select item 148969856611.

rs1489698566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53332622 (GRCh38)
12:53726406 (GRCh37)
Canonical SPDI:: NC_000012.12:53332621:C:T
Gene:: SP7 (Varview)
Functional Consequence:: intron_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_000012.12:g.53332622C>T, NC_000012.11:g.53726406C>T, NG_023391.2:g.17172G>A, NW_025791795.1:g.56372C>T

Select item 148958702612.

rs1489587026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:53328160 (GRCh38)
12:53721944 (GRCh37)
Canonical SPDI:: NC_000012.12:53328159:A:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53328160A>T, NC_000012.11:g.53721944A>T, NG_023391.2:g.21634T>A, NM_001173467.3:c.1282T>A, NM_001173467.2:c.1282T>A, NM_001173467.1:c.1282T>A, NM_001300837.2:c.1228T>A, NM_001300837.1:c.1228T>A, NM_152860.2:c.1282T>A, NM_152860.1:c.1282T>A, NW_025791795.1:g.51910A>T, NP_001166938.1:p.Leu428Met, NP_001287766.1:p.Leu410Met, NP_690599.1:p.Leu428Met

Select item 148958357013.

rs1489583570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53337918 (GRCh38)
12:53731702 (GRCh37)
Canonical SPDI:: NC_000012.12:53337917:C:T
Gene:: SP7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53337918C>T, NC_000012.11:g.53731702C>T, NG_023391.2:g.11876G>A, NW_025791795.1:g.61668C>T

Select item 148954038214.

rs1489540382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53328220 (GRCh38)
12:53722004 (GRCh37)
Canonical SPDI:: NC_000012.12:53328219:G:T
Gene:: SP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.53328220G>T, NC_000012.11:g.53722004G>T, NG_023391.2:g.21574C>A, NM_001173467.3:c.1222C>A, NM_001173467.2:c.1222C>A, NM_001173467.1:c.1222C>A, NM_001300837.2:c.1168C>A, NM_001300837.1:c.1168C>A, NM_152860.2:c.1222C>A, NM_152860.1:c.1222C>A, NW_025791795.1:g.51970G>T, NP_001166938.1:p.Pro408Thr, NP_001287766.1:p.Pro390Thr, NP_690599.1:p.Pro408Thr

Select item 148949272815.

rs1489492728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53339830 (GRCh38)
12:53733614 (GRCh37)
Canonical SPDI:: NC_000012.12:53339829:C:T
Gene:: SP7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.53339830C>T, NC_000012.11:g.53733614C>T, NG_023391.2:g.9964G>A, NW_025791795.1:g.63580C>T

Select item 148890584216.

rs1488905842 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:53345933 (GRCh38)
12:53739717 (GRCh37)
Canonical SPDI:: NC_000012.12:53345932:T:A,NC_000012.12:53345932:T:C
Gene:: SP7 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53345933T>A, NC_000012.12:g.53345933T>C, NC_000012.11:g.53739717T>A, NC_000012.11:g.53739717T>C, NG_023391.2:g.3861A>T, NG_023391.2:g.3861A>G, NW_025791795.1:g.69683T>A, NW_025791795.1:g.69683T>C

Select item 148889201117.

rs1488892011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53338144 (GRCh38)
12:53731928 (GRCh37)
Canonical SPDI:: NC_000012.12:53338143:G:A
Gene:: SP7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.53338144G>A, NC_000012.11:g.53731928G>A, NG_023391.2:g.11650C>T, NW_025791795.1:g.61894G>A

Select item 148864464118.

rs1488644641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53327026 (GRCh38)
12:53720810 (GRCh37)
Canonical SPDI:: NC_000012.12:53327025:C:G
Gene:: SP7 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53327026C>G, NC_000012.11:g.53720810C>G, NG_023391.2:g.22768G>C, NM_001173467.3:c.*1120G>C, NM_001173467.2:c.*1120G>C, NM_001173467.1:c.*1120G>C, NM_001300837.2:c.*1120G>C, NM_001300837.1:c.*1120G>C, NM_152860.2:c.*1120G>C, NM_152860.1:c.*1120G>C, NW_025791795.1:g.50776C>G

Select item 148840889519.

rs1488408895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53339405 (GRCh38)
12:53733189 (GRCh37)
Canonical SPDI:: NC_000012.12:53339404:T:C
Gene:: SP7 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53339405T>C, NC_000012.11:g.53733189T>C, NG_023391.2:g.10389A>G, NW_025791795.1:g.63155T>C