SNP Links for Gene (Select 261726) - SNP

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Select item 14915781431.

rs1491578143 has merged into rs927876104 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT [Show Flanks]
Chromosome:: 1:168201822 (GRCh38)
1:168171060 (GRCh37)
Canonical SPDI:: NC_000001.11:168201815:TTTTTTTTTT:TTTTTT,NC_000001.11:168201815:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:168201815:TTTTTTTTTT:TTTTTTTTTTT
Gene:: TIPRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000283/8 (TOMMO)
HGVS:: NC_000001.11:g.168201822_168201825del, NC_000001.11:g.168201825del, NC_000001.11:g.168201825dup, NC_000001.10:g.168171060_168171063del, NC_000001.10:g.168171063del, NC_000001.10:g.168171063dup, NM_152902.5:c.*1776_*1779del, NM_152902.5:c.*1779del, NM_152902.5:c.*1779dup, NM_152902.4:c.*1776_*1779del, NM_152902.4:c.*1779del, NM_152902.4:c.*1779dup, NM_152902.3:c.*1776_*1779del, NM_152902.3:c.*1779del, NM_152902.3:c.*1779dup

Select item 14913869992.

rs1491386999 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:168201770 (GRCh38)
1:168171008 (GRCh37)
Canonical SPDI:: NC_000001.11:168201769:CG:
Gene:: TIPRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000069/7 (GnomAD)
HGVS:: NC_000001.11:g.168201770_168201771del, NC_000001.10:g.168171008_168171009del, NM_152902.5:c.*1724_*1725del, NM_152902.4:c.*1724_*1725del, NM_152902.3:c.*1724_*1725del

Select item 14913471343.

rs1491347134 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:168180804 (GRCh38)
1:168150043 (GRCh37)
Canonical SPDI:: NC_000001.11:168180804:C:CC
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000118/1 (GnomAD)
HGVS:: NC_000001.11:g.168180805dup, NC_000001.10:g.168150043dup

Select item 14912543894.

rs1491254389 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:168182442 (GRCh38)
1:168151680 (GRCh37)
Canonical SPDI:: NC_000001.11:168182441:AT:
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.168182442_168182443del, NC_000001.10:g.168151680_168151681del

Select item 14912039725.

rs1491203972 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:168180805 (GRCh38)
1:168150043 (GRCh37)
Canonical SPDI:: NC_000001.11:168180803:TCT:T
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.168180805_168180806del, NC_000001.10:g.168150043_168150044del

Select item 14911515966.

rs1491151596 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 1:168196541 (GRCh38)
1:168165780 (GRCh37)
Canonical SPDI:: NC_000001.11:168196541:TC:TCTC
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTC=0./0 (ALFA)
TC=0.000011/3 (TOPMED)
TC=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.168196542_168196543dup, NC_000001.10:g.168165780_168165781dup

Select item 14910346747.

rs1491034674 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:168201775 (GRCh38)
1:168171014 (GRCh37)
Canonical SPDI:: NC_000001.11:168201775:T:TAT
Gene:: TIPRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.00003/3 (GnomAD)
HGVS:: NC_000001.11:g.168201776_168201777insAT, NC_000001.10:g.168171014_168171015insAT, NM_152902.5:c.*1730_*1731insAT, NM_152902.4:c.*1730_*1731insAT, NM_152902.3:c.*1730_*1731insAT

Select item 14908654698.

rs1490865469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:168197583 (GRCh38)
1:168166821 (GRCh37)
Canonical SPDI:: NC_000001.11:168197582:G:A
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.168197583G>A, NC_000001.10:g.168166821G>A

Select item 14907749869.

rs1490774986 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:168193358 (GRCh38)
1:168162597 (GRCh37)
Canonical SPDI:: NC_000001.11:168193358:TTTCTTT:TTTCTTTCTTT
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTTCTTT=0.000071/1 (ALFA)
TTTC=0.000007/1 (GnomAD)
TTTC=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.168193362_168193365dup, NC_000001.10:g.168162600_168162603dup

Select item 149071873710.

rs1490718737 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:168190342 (GRCh38)
1:168159580 (GRCh37)
Canonical SPDI:: NC_000001.11:168190338:ATATA:ATA
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.168190340TA[1], NC_000001.10:g.168159578TA[1]

Select item 149041431811.

rs1490414318 [Homo sapiens]

Variant type:: DEL
Alleles:: ATTC>- [Show Flanks]
Chromosome:: 1:168181208 (GRCh38)
1:168150446 (GRCh37)
Canonical SPDI:: NC_000001.11:168181207:ATTC:
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.168181208_168181211del, NC_000001.10:g.168150446_168150449del

Select item 149038571512.

rs1490385715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:168197211 (GRCh38)
1:168166449 (GRCh37)
Canonical SPDI:: NC_000001.11:168197210:G:T
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.168197211G>T, NC_000001.10:g.168166449G>T

Select item 149028584213.

rs1490285842 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAA>- [Show Flanks]
Chromosome:: 1:168192366 (GRCh38)
1:168161604 (GRCh37)
Canonical SPDI:: NC_000001.11:168192362:AAATAAA:AAA
Gene:: TIPRL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0.000142/2 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.168192366_168192369del, NC_000001.10:g.168161604_168161607del, NM_001031800.3:c.*138_*141del, NM_001031800.2:c.*138_*141del, NM_001031800.1:c.*138_*141del

Select item 148990291814.

rs1489902918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:168176906 (GRCh38)
1:168146144 (GRCh37)
Canonical SPDI:: NC_000001.11:168176905:A:G
Validated:: by frequency,by cluster
MAF:: G=0.00028/5 (TOMMO)
HGVS:: NC_000001.11:g.168176906A>G, NC_000001.10:g.168146144A>G

Select item 148989460315.

rs1489894603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:168196742 (GRCh38)
1:168165980 (GRCh37)
Canonical SPDI:: NC_000001.11:168196741:A:G
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.168196742A>G, NC_000001.10:g.168165980A>G

Select item 148987876416.

rs1489878764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:168181627 (GRCh38)
1:168150865 (GRCh37)
Canonical SPDI:: NC_000001.11:168181626:T:C
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.168181627T>C, NC_000001.10:g.168150865T>C

Select item 148960537017.

rs1489605370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:168177541 (GRCh38)
1:168146779 (GRCh37)
Canonical SPDI:: NC_000001.11:168177540:C:T
Gene:: TIPRL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.168177541C>T, NC_000001.10:g.168146779C>T

Select item 148955428118.

rs1489554281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:168180800 (GRCh38)
1:168150038 (GRCh37)
Canonical SPDI:: NC_000001.11:168180799:C:T
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00035/6 (TOMMO)
T=0.05818/170 (KOREAN)
HGVS:: NC_000001.11:g.168180800C>T, NC_000001.10:g.168150038C>T

Select item 148924322219.

rs1489243222 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:168184922 (GRCh38)
1:168154161 (GRCh37)
Canonical SPDI:: NC_000001.11:168184922:C:CC
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.168184923dup, NC_000001.10:g.168154161dup

Select item 148907789620.

rs1489077896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:168180414 (GRCh38)
1:168149652 (GRCh37)
Canonical SPDI:: NC_000001.11:168180413:G:A
Gene:: TIPRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.168180414G>A, NC_000001.10:g.168149652G>A

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