SNP Links for Gene (Select 130502) - SNP

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Select item 14913865351.

rs1491386535 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:19899676 (GRCh38)
2:20099438 (GRCh37)
Canonical SPDI:: NC_000002.12:19899676::A
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.00008/6 (GnomAD)
HGVS:: NC_000002.12:g.19899676_19899677insA, NC_000002.11:g.20099437_20099438insA

Select item 14911940862.

rs1491194086 has merged into rs975226469 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA [Show Flanks]
Chromosome:: 2:19899687 (GRCh38)
2:20099448 (GRCh37)
Canonical SPDI:: NC_000002.12:19899680:TATATATATATA:TATATA,NC_000002.12:19899680:TATATATATATA:TATATATA,NC_000002.12:19899680:TATATATATATA:TATATATATA,NC_000002.12:19899680:TATATATATATA:TATATATATATATA
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.19899681TA[3], NC_000002.12:g.19899681TA[4], NC_000002.12:g.19899681TA[5], NC_000002.12:g.19899681TA[7], NC_000002.11:g.20099442TA[3], NC_000002.11:g.20099442TA[4], NC_000002.11:g.20099442TA[5], NC_000002.11:g.20099442TA[7]

Select item 14911626963.

rs1491162696 has merged into rs35152115 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 2:19899680 (GRCh38)
2:20099441 (GRCh37)
Canonical SPDI:: NC_000002.12:19899675:TTTTTT:TTTT,NC_000002.12:19899675:TTTTTT:TTTTT,NC_000002.12:19899675:TTTTTT:TTTTTTT
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0.137071/1831 (ALFA)
-=0.215178/1078 (1000Genomes)
-=0.235294/8 (GENOME_DK)
-=0.25013/964 (ALSPAC)
-=0.250259/66241 (TOPMED)
-=0.253776/941 (TWINSUK)
-=0.271667/163 (NorthernSweden)
-=0.287996/523 (Korea1K)
-=0.298818/5008 (TOMMO)
HGVS:: NC_000002.12:g.19899680_19899681del, NC_000002.12:g.19899681del, NC_000002.12:g.19899681dup, NC_000002.11:g.20099441_20099442del, NC_000002.11:g.20099442del, NC_000002.11:g.20099442dup

Select item 14909660094.

rs1490966009 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:19899134 (GRCh38)
2:20098895 (GRCh37)
Canonical SPDI:: NC_000002.12:19899133:T:G
Gene:: TTC32 (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_000002.12:g.19899134T>G, NC_000002.11:g.20098895T>G

Select item 14901229445.

rs1490122944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:19897284 (GRCh38)
2:20097045 (GRCh37)
Canonical SPDI:: NC_000002.12:19897283:G:A,NC_000002.12:19897283:G:C
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.19897284G>A, NC_000002.12:g.19897284G>C, NC_000002.11:g.20097045G>A, NC_000002.11:g.20097045G>C

Select item 14899604256.

rs1489960425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:19896725 (GRCh38)
2:20096486 (GRCh37)
Canonical SPDI:: NC_000002.12:19896724:G:C
Gene:: TTC32 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19896725G>C, NC_000002.11:g.20096486G>C, NM_001008237.3:c.*262C>G, NM_001008237.2:c.*262C>G

Select item 14897565957.

rs1489756595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:19900000 (GRCh38)
2:20099761 (GRCh37)
Canonical SPDI:: NC_000002.12:19899999:A:G
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.005/3 (NorthernSweden)
HGVS:: NC_000002.12:g.19900000A>G, NC_000002.11:g.20099761A>G

Select item 14892701768.

rs1489270176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:19900418 (GRCh38)
2:20100179 (GRCh37)
Canonical SPDI:: NC_000002.12:19900417:G:C,NC_000002.12:19900417:G:T
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.19900418G>C, NC_000002.12:g.19900418G>T, NC_000002.11:g.20100179G>C, NC_000002.11:g.20100179G>T

Select item 14890282539.

rs1489028253 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGATATT>- [Show Flanks]
Chromosome:: 2:19901068 (GRCh38)
2:20100829 (GRCh37)
Canonical SPDI:: NC_000002.12:19901066:TTGATATT:T
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000007/1 (GnomAD_exomes)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.19901068_19901074del, NC_000002.11:g.20100829_20100835del

Select item 148886451310.

rs1488864513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19899960 (GRCh38)
2:20099721 (GRCh37)
Canonical SPDI:: NC_000002.12:19899959:T:C
Gene:: TTC32 (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_000002.12:g.19899960T>C, NC_000002.11:g.20099721T>C

Select item 148881648011.

rs1488816480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:19903964 (GRCh38)
2:20103725 (GRCh37)
Canonical SPDI:: NC_000002.12:19903963:G:C
Gene:: TTC32 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.19903964G>C, NC_000002.11:g.20103725G>C

Select item 148879403212.

rs1488794032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:19901715 (GRCh38)
2:20101476 (GRCh37)
Canonical SPDI:: NC_000002.12:19901714:C:T
Gene:: TTC32 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.19901715C>T, NC_000002.11:g.20101476C>T, NM_001008237.3:c.140G>A, NM_001008237.2:c.140G>A, NM_001008237.1:c.140G>A, NP_001008238.1:p.Ser47Asn

Select item 148814548413.

rs1488145484 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:19903134 (GRCh38)
2:20102895 (GRCh37)
Canonical SPDI:: NC_000002.12:19903133:A:T
Gene:: TTC32 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.0043/19 (Estonian)
HGVS:: NC_000002.12:g.19903134A>T, NC_000002.11:g.20102895A>T

Select item 148799093514.

rs1487990935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:19900576 (GRCh38)
2:20100337 (GRCh37)
Canonical SPDI:: NC_000002.12:19900575:C:G
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19900576C>G, NC_000002.11:g.20100337C>G

Select item 148756269015.

rs1487562690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:19899252 (GRCh38)
2:20099013 (GRCh37)
Canonical SPDI:: NC_000002.12:19899251:G:A
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.19899252G>A, NC_000002.11:g.20099013G>A

Select item 148722750216.

rs1487227502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:19899593 (GRCh38)
2:20099354 (GRCh37)
Canonical SPDI:: NC_000002.12:19899592:G:A
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19899593G>A, NC_000002.11:g.20099354G>A

Select item 148671426217.

rs1486714262 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:19899455 (GRCh38)
2:20099217 (GRCh37)
Canonical SPDI:: NC_000002.12:19899455:T:TT
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.19899456dup, NC_000002.11:g.20099217dup

Select item 148667004918.

rs1486670049 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:19902011 (GRCh38)
2:20101772 (GRCh37)
Canonical SPDI:: NC_000002.12:19902010:A:C
Gene:: TTC32 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.19902011A>C, NC_000002.11:g.20101772A>C

Select item 148625240919.

rs1486252409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:19900728 (GRCh38)
2:20100489 (GRCh37)
Canonical SPDI:: NC_000002.12:19900727:A:G
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000002.12:g.19900728A>G, NC_000002.11:g.20100489A>G

Select item 148616772720.

rs1486167727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:19901438 (GRCh38)
2:20101199 (GRCh37)
Canonical SPDI:: NC_000002.12:19901437:T:C
Gene:: TTC32 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.19901438T>C, NC_000002.11:g.20101199T>C

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