SNP Links for Gene (Select 374491) - SNP

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Select item 14915833501.

rs1491583350 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 13:24587144 (GRCh38)
13:25161282 (GRCh37)
Canonical SPDI:: NC_000013.11:24587143:CA:
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00641/76 (ALFA)
-=0.00209/59 (TOMMO)
HGVS:: NC_000013.11:g.24587144_24587145del, NC_000013.10:g.25161282_25161283del

Select item 14915487302.

rs1491548730 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:24588651 (GRCh38)
13:25162789 (GRCh37)
Canonical SPDI:: NC_000013.11:24588647:TTTTT:TTT
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.24588651_24588652del, NC_000013.10:g.25162789_25162790del

Select item 14912763343.

rs1491276334 has merged into rs889943032 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTTCTTTTCTTTT>-,CTTTT,CTTTTCTTTT,CTTTTCTTTTCTTTTCTTTT,CTTTTCTTTTCTTTTCTTTTCTTTT [Show Flanks]
Chromosome:: 13:24588663 (GRCh38)
13:25162801 (GRCh37)
Canonical SPDI:: NC_000013.11:24588648:TTTTCTTTTCTTTTCTTTTCTTTTCTTTT:TTTTCTTTTCTTTT,NC_000013.11:24588648:TTTTCTTTTCTTTTCTTTTCTTTTCTTTT:TTTTCTTTTCTTTTCTTTT,NC_000013.11:24588648:TTTTCTTTTCTTTTCTTTTCTTTTCTTTT:TTTTCTTTTCTTTTCTTTTCTTTT,NC_000013.11:24588648:TTTTCTTTTCTTTTCTTTTCTTTTCTTTT:TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT,NC_000013.11:24588648:TTTTCTTTTCTTTTCTTTTCTTTTCTTTT:TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTCTTTTCTTTTCTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TTTTC=0.001667/1 (NorthernSweden)
HGVS:: NC_000013.11:g.24588653CTTTT[2], NC_000013.11:g.24588653CTTTT[3], NC_000013.11:g.24588653CTTTT[4], NC_000013.11:g.24588653CTTTT[6], NC_000013.11:g.24588653CTTTT[7], NC_000013.10:g.25162791CTTTT[2], NC_000013.10:g.25162791CTTTT[3], NC_000013.10:g.25162791CTTTT[4], NC_000013.10:g.25162791CTTTT[6], NC_000013.10:g.25162791CTTTT[7]

Select item 14912300444.

rs1491230044 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 13:24587766 (GRCh38)
13:25161905 (GRCh37)
Canonical SPDI:: NC_000013.11:24587766::A
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00051/6 (ALFA)
A=0.00068/11 (TOMMO)
A=0.00182/55 (GnomAD)
HGVS:: NC_000013.11:g.24587766_24587767insA, NC_000013.10:g.25161904_25161905insA

Select item 14911743825.

rs1491174382 has merged into rs201102942 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 13:24587155 (GRCh38)
13:25161293 (GRCh37)
Canonical SPDI:: NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000013.11:24587144:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0633/244 (ALSPAC)
A=0.2694/1349 (1000Genomes)
HGVS:: NC_000013.11:g.24587155_24587163del, NC_000013.11:g.24587158_24587163del, NC_000013.11:g.24587159_24587163del, NC_000013.11:g.24587160_24587163del, NC_000013.11:g.24587161_24587163del, NC_000013.11:g.24587162_24587163del, NC_000013.11:g.24587163del, NC_000013.11:g.24587163dup, NC_000013.11:g.24587162_24587163dup, NC_000013.11:g.24587161_24587163dup, NC_000013.10:g.25161293_25161301del, NC_000013.10:g.25161296_25161301del, NC_000013.10:g.25161297_25161301del, NC_000013.10:g.25161298_25161301del, NC_000013.10:g.25161299_25161301del, NC_000013.10:g.25161300_25161301del, NC_000013.10:g.25161301del, NC_000013.10:g.25161301dup, NC_000013.10:g.25161300_25161301dup, NC_000013.10:g.25161299_25161301dup

Select item 14911660186.

rs1491166018 has merged into rs796853338 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 13:24587773 (GRCh38)
13:25161911 (GRCh37)
Canonical SPDI:: NC_000013.11:24587765:TTTTTTTTT:TTTTTTT,NC_000013.11:24587765:TTTTTTTTT:TTTTTTTT,NC_000013.11:24587765:TTTTTTTTT:TTTTTTTTTT
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.31088/5191 (TOMMO)
-=0.37883/2426 (1000Genomes)
HGVS:: NC_000013.11:g.24587773_24587774del, NC_000013.11:g.24587774del, NC_000013.11:g.24587774dup, NC_000013.10:g.25161911_25161912del, NC_000013.10:g.25161912del, NC_000013.10:g.25161912dup

Select item 14910340567.

rs1491034056 has merged into rs201452977 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:24591112 (GRCh38)
13:25165250 (GRCh37)
Canonical SPDI:: NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:24591102:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.138514/574 (1000Genomes)
HGVS:: NC_000013.11:g.24591112_24591118del, NC_000013.11:g.24591113_24591118del, NC_000013.11:g.24591115_24591118del, NC_000013.11:g.24591117_24591118del, NC_000013.11:g.24591118del, NC_000013.11:g.24591118dup, NC_000013.11:g.24591117_24591118dup, NC_000013.11:g.24591116_24591118dup, NC_000013.11:g.24591115_24591118dup, NC_000013.11:g.24591110_24591118dup, NC_000013.11:g.24591118_24591119insTTTTTTTTTTTTTTTTTT, NC_000013.11:g.24591118_24591119insTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.24591118_24591119insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.24591118_24591119insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.25165250_25165256del, NC_000013.10:g.25165251_25165256del, NC_000013.10:g.25165253_25165256del, NC_000013.10:g.25165255_25165256del, NC_000013.10:g.25165256del, NC_000013.10:g.25165256dup, NC_000013.10:g.25165255_25165256dup, NC_000013.10:g.25165254_25165256dup, NC_000013.10:g.25165253_25165256dup, NC_000013.10:g.25165248_25165256dup, NC_000013.10:g.25165256_25165257insTTTTTTTTTTTTTTTTTT, NC_000013.10:g.25165256_25165257insTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.25165256_25165257insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.25165256_25165257insTTTTTTTTTTTTTTTTTTTTTT

Select item 14910251588.

rs1491025158 has merged into rs1370494734 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 13:24595773 (GRCh38)
13:25169911 (GRCh37)
Canonical SPDI:: NC_000013.11:24595772:TTTTTTTT:TTTTTTT,NC_000013.11:24595772:TTTTTTTT:TTTTTTTTT
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.00006/1 (TOMMO)
HGVS:: NC_000013.11:g.24595780del, NC_000013.11:g.24595780dup, NC_000013.10:g.25169918del, NC_000013.10:g.25169918dup

Select item 14909070809.

rs1490907080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:24579504 (GRCh38)
13:25153642 (GRCh37)
Canonical SPDI:: NC_000013.11:24579503:T:A
Gene:: TPTE2P6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.24579504T>A, NC_000013.10:g.25153642T>A

Select item 149082368110.

rs1490823681 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->A
Chromosome:: no mapping
Canonical SPDI:

Select item 149077987511.

rs1490779875 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 13:24584501 (GRCh38)
13:25158639 (GRCh37)
Canonical SPDI:: NC_000013.11:24584500:C:
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.24584501del, NC_000013.10:g.25158639del

Select item 149068843312.

rs1490688433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:24585493 (GRCh38)
13:25159631 (GRCh37)
Canonical SPDI:: NC_000013.11:24585492:C:G,NC_000013.11:24585492:C:T
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000013.11:g.24585493C>G, NC_000013.11:g.24585493C>T, NC_000013.10:g.25159631C>G, NC_000013.10:g.25159631C>T

Select item 149040850413.

rs1490408504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:24591268 (GRCh38)
13:25165406 (GRCh37)
Canonical SPDI:: NC_000013.11:24591267:T:C
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_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_000013.11:g.24591268T>C, NC_000013.10:g.25165406T>C

Select item 149037372714.

rs1490373727 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:24597556 (GRCh38)
13:25171694 (GRCh37)
Canonical SPDI:: NC_000013.11:24597555:G:
Gene:: TPTE2P6 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000013.11:g.24597556del, NC_000013.10:g.25171694del, NR_002815.2:n.2596del

Select item 149031768415.

rs1490317684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:24593661 (GRCh38)
13:25167799 (GRCh37)
Canonical SPDI:: NC_000013.11:24593660:G:A
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000013.11:g.24593661G>A, NC_000013.10:g.25167799G>A

Select item 149030845316.

rs1490308453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:24580050 (GRCh38)
13:25154188 (GRCh37)
Canonical SPDI:: NC_000013.11:24580049:A:G
Gene:: TPTE2P6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000013.11:g.24580050A>G, NC_000013.10:g.25154188A>G

Select item 148978043717.

rs1489780437 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:24583858 (GRCh38)
13:25157996 (GRCh37)
Canonical SPDI:: NC_000013.11:24583857:A:G
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000049/13 (TOPMED)
HGVS:: NC_000013.11:g.24583858A>G, NC_000013.10:g.25157996A>G

Select item 148948545218.

rs1489485452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:24583092 (GRCh38)
13:25157230 (GRCh37)
Canonical SPDI:: NC_000013.11:24583091:G:A,NC_000013.11:24583091:G:T
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.24583092G>A, NC_000013.11:g.24583092G>T, NC_000013.10:g.25157230G>A, NC_000013.10:g.25157230G>T

Select item 148945435619.

rs1489454356 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:24582829 (GRCh38)
13:25156967 (GRCh37)
Canonical SPDI:: NC_000013.11:24582828:A:G
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000013.11:g.24582829A>G, NC_000013.10:g.25156967A>G

Select item 148929764820.

rs1489297648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:24587362 (GRCh38)
13:25161500 (GRCh37)
Canonical SPDI:: NC_000013.11:24587361:G:A
Gene:: TPTE2P6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.24587362G>A, NC_000013.10:g.25161500G>A

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