SNP Links for Gene (Select 643965) - SNP

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Select item 14914447281.

rs1491444728 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:1427365 (GRCh38)
1:1362745 (GRCh37)
Canonical SPDI:: NC_000001.11:1427364:TT:
Gene:: TMEM88B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.1427365_1427366del, NC_000001.10:g.1362745_1362746del

Select item 14913619762.

rs1491361976 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCCTCCCCTCCATCACCCTGCCCTGC,CCCTTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGC [Show Flanks]
Chromosome:: 1:1427365 (GRCh38)
1:1362746 (GRCh37)
Canonical SPDI:: NC_000001.11:1427365:TCCCCTCCATCACCCTGCCCTGC:TCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGC,NC_000001.11:1427365:TCCCCTCCATCACCCTGCCCTGC:TCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGC
Gene:: TMEM88B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TCCCCTCCATCACCCTGCCCTGCCCCC=0.00244/31 (TOMMO)
HGVS:: NC_000001.11:g.1427388_1427389insCCCCTCCCCTCCATCACCCTGCCCTGC, NC_000001.11:g.1427388_1427389insCCCTTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGC, NC_000001.10:g.1362768_1362769insCCCCTCCCCTCCATCACCCTGCCCTGC, NC_000001.10:g.1362768_1362769insCCCTTCCCCTCCATCACCCTGCCCTGCCCCCTCCCCTCCATCACCCTGCCCTGC

Select item 14907925053.

rs1490792505 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCTTCCCCTCCATCACCCTGCCCTGC>-,CCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGC [Show Flanks]
Chromosome:: 1:1427362 (GRCh38)
1:1362742 (GRCh37)
Canonical SPDI:: NC_000001.11:1427333:CCCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGC:CCCCTTCCCCTCCATCACCCTGCCCTGC,NC_000001.11:1427333:CCCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGC:CCCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGCCCCTTCCCCTCCATCACCCTGCCCTGC
Gene:: TMEM88B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCTTCCCCTCCATCACCCTGCCCTGC=0.00008/1 (ALFA)
-=0.00006/1 (TOMMO)
-=0.00168/3 (Korea1K)
HGVS:: NC_000001.11:g.1427335CCCTTCCCCTCCATCACCCTGCCCTGC[1], NC_000001.11:g.1427335CCCTTCCCCTCCATCACCCTGCCCTGC[3], NC_000001.10:g.1362715CCCTTCCCCTCCATCACCCTGCCCTGC[1], NC_000001.10:g.1362715CCCTTCCCCTCCATCACCCTGCCCTGC[3]

Select item 14906521934.

rs1490652193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:1428083 (GRCh38)
1:1363463 (GRCh37)
Canonical SPDI:: NC_000001.11:1428082:A:C,NC_000001.11:1428082:A:G
Gene:: TMEM88B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.00155/2 (Korea1K)
C=0.00311/23 (TOMMO)
C=0.02318/51 (KOREAN)
HGVS:: NC_000001.11:g.1428083A>C, NC_000001.11:g.1428083A>G, NC_000001.10:g.1363463A>C, NC_000001.10:g.1363463A>G, NM_001146685.2:c.*296A>C, NM_001146685.2:c.*296A>G

Select item 14905786545.

rs1490578654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:1426278 (GRCh38)
1:1361658 (GRCh37)
Canonical SPDI:: NC_000001.11:1426277:C:G
Gene:: TMEM88B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1426278C>G, NC_000001.10:g.1361658C>G, NM_001146685.2:c.151C>G, NM_001146685.1:c.151C>G, NP_001140157.1:p.Leu51Val

Select item 14902325546.

rs1490232554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1426232 (GRCh38)
1:1361612 (GRCh37)
Canonical SPDI:: NC_000001.11:1426231:C:T
Gene:: TMEM88B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1426232C>T, NC_000001.10:g.1361612C>T, NM_001146685.2:c.105C>T, NM_001146685.1:c.105C>T

Select item 14900979357.

rs1490097935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:1425119 (GRCh38)
1:1360499 (GRCh37)
Canonical SPDI:: NC_000001.11:1425118:C:T
Gene:: TMEM88B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000001.11:g.1425119C>T, NC_000001.10:g.1360499C>T

Select item 14898143888.

rs1489814388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:1428169 (GRCh38)
1:1363549 (GRCh37)
Canonical SPDI:: NC_000001.11:1428168:A:G
Gene:: TMEM88B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00123/72 (GnomAD)
HGVS:: NC_000001.11:g.1428169A>G, NC_000001.10:g.1363549A>G, NM_001146685.2:c.*382A>G

Select item 14897296479.

rs1489729647 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:1427719 (GRCh38)
1:1363099 (GRCh37)
Canonical SPDI:: NC_000001.11:1427718:GGG:GG
Gene:: TMEM88B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.1427721del, NC_000001.10:g.1363101del, NM_001146685.2:c.426del, NM_001146685.1:c.426del, NP_001140157.1:p.Thr143fs

Select item 148960973610.

rs1489609736 [Homo sapiens]

Variant type:: DEL
Alleles:: GCG>- [Show Flanks]
Chromosome:: 1:1427328 (GRCh38)
1:1362708 (GRCh37)
Canonical SPDI:: NC_000001.11:1427327:GCG:
Gene:: TMEM88B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.1427328_1427330del, NC_000001.10:g.1362708_1362710del

Select item 148946069411.

rs1489460694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1426657 (GRCh38)
1:1362037 (GRCh37)
Canonical SPDI:: NC_000001.11:1426656:G:A
Gene:: TMEM88B (Varview)
Functional Consequence:: intron_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_000001.11:g.1426657G>A, NC_000001.10:g.1362037G>A

Select item 148886736812.

rs1488867368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:1425612 (GRCh38)
1:1360992 (GRCh37)
Canonical SPDI:: NC_000001.11:1425611:C:A,NC_000001.11:1425611:C:T
Gene:: TMEM88B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000312/2 (1000Genomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.1425612C>A, NC_000001.11:g.1425612C>T, NC_000001.10:g.1360992C>A, NC_000001.10:g.1360992C>T

Select item 148875281913.

rs1488752819 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:1424206 (GRCh38)
1:1359586 (GRCh37)
Canonical SPDI:: NC_000001.11:1424205:G:A,NC_000001.11:1424205:G:T
Gene:: TMEM88B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.1424206G>A, NC_000001.11:g.1424206G>T, NC_000001.10:g.1359586G>A, NC_000001.10:g.1359586G>T

Select item 148803121214.

rs1488031212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1426126 (GRCh38)
1:1361506 (GRCh37)
Canonical SPDI:: NC_000001.11:1426125:G:A
Gene:: TMEM88B (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1426126G>A, NC_000001.10:g.1361506G>A, NM_001146685.2:c.-2G>A

Select item 148731547815.

rs1487315478 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:1427552 (GRCh38)
1:1362932 (GRCh37)
Canonical SPDI:: NC_000001.11:1427551:A:C,NC_000001.11:1427551:A:G
Gene:: TMEM88B (Varview)
Functional Consequence:: splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.04464/95 (KOREAN)
HGVS:: NC_000001.11:g.1427552A>C, NC_000001.11:g.1427552A>G, NC_000001.10:g.1362932A>C, NC_000001.10:g.1362932A>G

Select item 148723657316.

rs1487236573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:1427876 (GRCh38)
1:1363256 (GRCh37)
Canonical SPDI:: NC_000001.11:1427875:C:A
Gene:: TMEM88B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1427876C>A, NC_000001.10:g.1363256C>A, NM_001146685.2:c.*89C>A

Select item 148722576217.

rs1487225762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:1427331 (GRCh38)
1:1362711 (GRCh37)
Canonical SPDI:: NC_000001.11:1427330:C:G,NC_000001.11:1427330:C:T
Gene:: TMEM88B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.1427331C>G, NC_000001.11:g.1427331C>T, NC_000001.10:g.1362711C>G, NC_000001.10:g.1362711C>T

Select item 148691716918.

rs1486917169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1428085 (GRCh38)
1:1363465 (GRCh37)
Canonical SPDI:: NC_000001.11:1428084:G:A
Gene:: TMEM88B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.1428085G>A, NC_000001.10:g.1363465G>A, NM_001146685.2:c.*298G>A

Select item 148691477719.

rs1486914777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:1426797 (GRCh38)
1:1362177 (GRCh37)
Canonical SPDI:: NC_000001.11:1426796:G:A
Gene:: TMEM88B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.1426797G>A, NC_000001.10:g.1362177G>A

Select item 148661504720.

rs1486615047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:1427618 (GRCh38)
1:1362998 (GRCh37)
Canonical SPDI:: NC_000001.11:1427617:T:C
Gene:: TMEM88B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.1427618T>C, NC_000001.10:g.1362998T>C, NM_001146685.2:c.323T>C, NM_001146685.1:c.323T>C, NP_001140157.1:p.Ile108Thr

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