SNP Links for Gene (Select 254187) - SNP

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Select item 14910064091.

rs1491006409 has merged into rs377116599 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:65949862 (GRCh38)
11:65717333 (GRCh37)
Canonical SPDI:: NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:65949850:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000011.10:g.65949862_65949871del, NC_000011.10:g.65949863_65949871del, NC_000011.10:g.65949868_65949871del, NC_000011.10:g.65949869_65949871del, NC_000011.10:g.65949870_65949871del, NC_000011.10:g.65949871del, NC_000011.10:g.65949871dup, NC_000011.10:g.65949870_65949871dup, NC_000011.10:g.65949869_65949871dup, NC_000011.10:g.65949868_65949871dup, NC_000011.10:g.65949867_65949871dup, NC_000011.10:g.65949866_65949871dup, NC_000011.10:g.65949865_65949871dup, NC_000011.10:g.65949864_65949871dup, NC_000011.10:g.65949863_65949871dup, NC_000011.10:g.65949861_65949871dup, NC_000011.10:g.65949853_65949871dup, NC_000011.10:g.65949852_65949871dup, NC_000011.10:g.65949871_65949872insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.65949871_65949872insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.10:g.65949871_65949872insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.65717333_65717342del, NC_000011.9:g.65717334_65717342del, NC_000011.9:g.65717339_65717342del, NC_000011.9:g.65717340_65717342del, NC_000011.9:g.65717341_65717342del, NC_000011.9:g.65717342del, NC_000011.9:g.65717342dup, NC_000011.9:g.65717341_65717342dup, NC_000011.9:g.65717340_65717342dup, NC_000011.9:g.65717339_65717342dup, NC_000011.9:g.65717338_65717342dup, NC_000011.9:g.65717337_65717342dup, NC_000011.9:g.65717336_65717342dup, NC_000011.9:g.65717335_65717342dup, NC_000011.9:g.65717334_65717342dup, NC_000011.9:g.65717332_65717342dup, NC_000011.9:g.65717324_65717342dup, NC_000011.9:g.65717323_65717342dup, NC_000011.9:g.65717342_65717343insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.65717342_65717343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000011.9:g.65717342_65717343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909431102.

rs1490943110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:65957486 (GRCh38)
11:65724957 (GRCh37)
Canonical SPDI:: NC_000011.10:65957485:G:C,NC_000011.10:65957485:G:T
Gene:: TSGA10IP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65957486G>C, NC_000011.10:g.65957486G>T, NC_000011.9:g.65724957G>C, NC_000011.9:g.65724957G>T

Select item 14909314493.

rs1490931449 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 11:65945571 (GRCh38)
11:65713042 (GRCh37)
Canonical SPDI:: NC_000011.10:65945570:TT:T
Gene:: TSGA10IP (Varview), LOC105369350 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000011.10:g.65945572del, NC_000011.9:g.65713043del, NM_152762.3:c.-104del, XR_949858.2:n.93del, XR_949858.1:n.128del, NM_001395491.1:c.-104del, NM_001395492.1:c.-419del, NM_001395493.1:c.-375del, NM_001395495.1:c.-270del, NM_001395494.1:c.-104del, NR_172563.1:n.93del

Select item 14902846954.

rs1490284695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65945766 (GRCh38)
11:65713237 (GRCh37)
Canonical SPDI:: NC_000011.10:65945765:C:T
Gene:: TSGA10IP (Varview), LOC105369350 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65945766C>T, NC_000011.9:g.65713237C>T, NM_152762.3:c.91C>T, NM_152762.2:c.91C>T, XR_949858.2:n.287C>T, XR_949858.1:n.322C>T, NM_001395491.1:c.91C>T, NM_001395492.1:c.-225C>T, NM_001395493.1:c.-181C>T, NM_001395495.1:c.-76C>T, NM_001395494.1:c.91C>T, NR_172563.1:n.287C>T, NP_689975.2:p.Pro31Ser, NP_001382420.1:p.Pro31Ser, NP_001382423.1:p.Pro31Ser

Select item 14902688155.

rs1490268815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65949599 (GRCh38)
11:65717070 (GRCh37)
Canonical SPDI:: NC_000011.10:65949598:T:C
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_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_000011.10:g.65949599T>C, NC_000011.9:g.65717070T>C

Select item 14899665656.

rs1489966565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65958526 (GRCh38)
11:65725997 (GRCh37)
Canonical SPDI:: NC_000011.10:65958525:G:A
Gene:: TSGA10IP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.65958526G>A, NC_000011.9:g.65725997G>A

Select item 14898913997.

rs1489891399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65959777 (GRCh38)
11:65727248 (GRCh37)
Canonical SPDI:: NC_000011.10:65959776:G:A
Gene:: SART1 (Varview), TSGA10IP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65959777G>A, NC_000011.9:g.65727248G>A

Select item 14898118608.

rs1489811860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65948660 (GRCh38)
11:65716131 (GRCh37)
Canonical SPDI:: NC_000011.10:65948659:G:A
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65948660G>A, NC_000011.9:g.65716131G>A

Select item 14896261179.

rs1489626117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65952066 (GRCh38)
11:65719537 (GRCh37)
Canonical SPDI:: NC_000011.10:65952065:C:G
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65952066C>G, NC_000011.9:g.65719537C>G

Select item 148953813110.

rs1489538131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:65959658 (GRCh38)
11:65727129 (GRCh37)
Canonical SPDI:: NC_000011.10:65959657:A:C,NC_000011.10:65959657:A:G
Gene:: TSGA10IP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65959658A>C, NC_000011.10:g.65959658A>G, NC_000011.9:g.65727129A>C, NC_000011.9:g.65727129A>G

Select item 148945125511.

rs1489451255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:65960764 (GRCh38)
11:65728235 (GRCh37)
Canonical SPDI:: NC_000011.10:65960763:A:C,NC_000011.10:65960763:A:G
Gene:: SART1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.65960764A>C, NC_000011.10:g.65960764A>G, NC_000011.9:g.65728235A>C, NC_000011.9:g.65728235A>G

Select item 148937377012.

rs1489373770 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65948025 (GRCh38)
11:65715496 (GRCh37)
Canonical SPDI:: NC_000011.10:65948024:C:T
Gene:: TSGA10IP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,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_000011.10:g.65948025C>T, NC_000011.9:g.65715496C>T, NM_152762.3:c.1028C>T, NM_152762.2:c.1028C>T, NM_001395491.1:c.1028C>T, NM_001395492.1:c.620C>T, NM_001395493.1:c.620C>T, XM_047426706.1:c.620C>T, NM_001395495.1:c.143C>T, NP_689975.2:p.Thr343Ile, NP_001382420.1:p.Thr343Ile, NP_001382421.1:p.Thr207Ile, NP_001382422.1:p.Thr207Ile, XP_047282662.1:p.Thr207Ile, NP_001382424.1:p.Thr48Ile

Select item 148917001613.

rs1489170016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65951126 (GRCh38)
11:65718597 (GRCh37)
Canonical SPDI:: NC_000011.10:65951125:A:G
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.65951126A>G, NC_000011.9:g.65718597A>G

Select item 148884731014.

rs1488847310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65949650 (GRCh38)
11:65717121 (GRCh37)
Canonical SPDI:: NC_000011.10:65949649:C:T
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.65949650C>T, NC_000011.9:g.65717121C>T

Select item 148871738115.

rs1488717381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:65944646 (GRCh38)
11:65712117 (GRCh37)
Canonical SPDI:: NC_000011.10:65944645:C:A
Gene:: TSGA10IP (Varview), LOC105369350 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.65944646C>A, NC_000011.9:g.65712117C>A

Select item 148859209416.

rs1488592094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:65949221 (GRCh38)
11:65716692 (GRCh37)
Canonical SPDI:: NC_000011.10:65949220:T:G
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65949221T>G, NC_000011.9:g.65716692T>G

Select item 148845982417.

rs1488459824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65948111 (GRCh38)
11:65715582 (GRCh37)
Canonical SPDI:: NC_000011.10:65948110:C:T
Gene:: TSGA10IP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65948111C>T, NC_000011.9:g.65715582C>T, NM_152762.3:c.1114C>T, NM_152762.2:c.1114C>T, XR_949858.2:n.1266C>T, XR_949858.1:n.1301C>T, NM_001395491.1:c.1114C>T, NM_001395492.1:c.706C>T, NM_001395493.1:c.706C>T, XM_047426706.1:c.706C>T, NM_001395495.1:c.229C>T, NM_001395494.1:c.214C>T, NP_689975.2:p.Pro372Ser, NP_001382420.1:p.Pro372Ser, NP_001382421.1:p.Pro236Ser, NP_001382422.1:p.Pro236Ser, XP_047282662.1:p.Pro236Ser, NP_001382424.1:p.Pro77Ser, NP_001382423.1:p.Pro72Ser

Select item 148819015018.

rs1488190150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65951687 (GRCh38)
11:65719158 (GRCh37)
Canonical SPDI:: NC_000011.10:65951686:G:T
Gene:: TSGA10IP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65951687G>T, NC_000011.9:g.65719158G>T

Select item 148784323419.

rs1487843234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:65957023 (GRCh38)
11:65724494 (GRCh37)
Canonical SPDI:: NC_000011.10:65957022:T:A
Gene:: TSGA10IP (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65957023T>A, NC_000011.9:g.65724494T>A

Select item 148768806720.

rs1487688067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65947717 (GRCh38)
11:65715188 (GRCh37)
Canonical SPDI:: NC_000011.10:65947716:A:G
Gene:: TSGA10IP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65947717A>G, NC_000011.9:g.65715188A>G, NM_152762.3:c.892A>G, NM_152762.2:c.892A>G, XR_949858.2:n.1088A>G, XR_949858.1:n.1123A>G, NM_001395491.1:c.892A>G, NM_001395492.1:c.484A>G, NM_001395493.1:c.484A>G, XM_047426706.1:c.484A>G, NP_689975.2:p.Ser298Gly, NP_001382420.1:p.Ser298Gly, NP_001382421.1:p.Ser162Gly, NP_001382422.1:p.Ser162Gly, XP_047282662.1:p.Ser162Gly

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