SNP Links for Gene (Select 440419) - SNP

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Items: 1 to 20 of 3764

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Select item 14909427181.

rs1490942718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:27428854 (GRCh38)
17:25755880 (GRCh37)
Canonical SPDI:: NC_000017.11:27428853:T:A
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.27428854T>A, NC_000017.10:g.25755880T>A

Select item 14906775682.

rs1490677568 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:27420306 (GRCh38)
17:25747332 (GRCh37)
Canonical SPDI:: NC_000017.11:27420305:C:A
Gene:: TBC1D3P5 (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_000017.11:g.27420306C>A, NC_000017.10:g.25747332C>A

Select item 14905357553.

rs1490535755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:27427918 (GRCh38)
17:25754944 (GRCh37)
Canonical SPDI:: NC_000017.11:27427917:T:G
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000212/4 (TOMMO)
G=0.001711/5 (KOREAN)
HGVS:: NC_000017.11:g.27427918T>G, NC_000017.10:g.25754944T>G

Select item 14904879694.

rs1490487969 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:27420850 (GRCh38)
17:25747876 (GRCh37)
Canonical SPDI:: NC_000017.11:27420849:C:T
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: 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_000017.11:g.27420850C>T, NC_000017.10:g.25747876C>T

Select item 14901693895.

rs1490169389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27421623 (GRCh38)
17:25748649 (GRCh37)
Canonical SPDI:: NC_000017.11:27421622:G:A
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.27421623G>A, NC_000017.10:g.25748649G>A

Select item 14901294466.

rs1490129446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:27427599 (GRCh38)
17:25754625 (GRCh37)
Canonical SPDI:: NC_000017.11:27427598:T:G
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.27427599T>G, NC_000017.10:g.25754625T>G

Select item 14901246857.

rs1490124685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:27429711 (GRCh38)
17:25756737 (GRCh37)
Canonical SPDI:: NC_000017.11:27429710:C:A,NC_000017.11:27429710:C:T
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.27429711C>A, NC_000017.11:g.27429711C>T, NC_000017.10:g.25756737C>A, NC_000017.10:g.25756737C>T

Select item 14896172618.

rs1489617261 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:27430776 (GRCh38)
17:25757802 (GRCh37)
Canonical SPDI:: NC_000017.11:27430773:CTCT:CT
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.27430774CT[1], NC_000017.10:g.25757800CT[1]

Select item 14893728349.

rs1489372834 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:27418808 (GRCh38)
17:25745834 (GRCh37)
Canonical SPDI:: NC_000017.11:27418807:A:G
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.27418808A>G, NC_000017.10:g.25745834A>G

Select item 148905636810.

rs1489056368 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:27425318 (GRCh38)
17:25752345 (GRCh37)
Canonical SPDI:: NC_000017.11:27425318::T
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.27425318_27425319insT, NC_000017.10:g.25752344_25752345insT

Select item 148883250511.

rs1488832505 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:27428615 (GRCh38)
17:25755641 (GRCh37)
Canonical SPDI:: NC_000017.11:27428614:A:G
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.27428615A>G, NC_000017.10:g.25755641A>G

Select item 148878341212.

rs1488783412 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:27430537 (GRCh38)
17:25757563 (GRCh37)
Canonical SPDI:: NC_000017.11:27430536:G:A,NC_000017.11:27430536:G:C
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.27430537G>A, NC_000017.11:g.27430537G>C, NC_000017.10:g.25757563G>A, NC_000017.10:g.25757563G>C

Select item 148871679713.

rs1488716797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27421635 (GRCh38)
17:25748661 (GRCh37)
Canonical SPDI:: NC_000017.11:27421634:G:A
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
A=0.000212/4 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000017.11:g.27421635G>A, NC_000017.10:g.25748661G>A, NR_033892.1:n.562G>A

Select item 148847661014.

rs1488476610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:27426012 (GRCh38)
17:25753038 (GRCh37)
Canonical SPDI:: NC_000017.11:27426011:G:A
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.27426012G>A, NC_000017.10:g.25753038G>A, NR_033892.1:n.1483G>A

Select item 148824842915.

rs1488248429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:27416053 (GRCh38)
17:25743079 (GRCh37)
Canonical SPDI:: NC_000017.11:27416052:C:T
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.27416053C>T, NC_000017.10:g.25743079C>T

Select item 148803105416.

rs1488031054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:27423458 (GRCh38)
17:25750484 (GRCh37)
Canonical SPDI:: NC_000017.11:27423457:A:C
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.27423458A>C, NC_000017.10:g.25750484A>C

Select item 148778892217.

rs1487788922 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:27430092 (GRCh38)
17:25757118 (GRCh37)
Canonical SPDI:: NC_000017.11:27430091:G:A,NC_000017.11:27430091:G:C
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00011/2 (TOMMO)
HGVS:: NC_000017.11:g.27430092G>A, NC_000017.11:g.27430092G>C, NC_000017.10:g.25757118G>A, NC_000017.10:g.25757118G>C, NR_033892.1:n.1952G>A, NR_033892.1:n.1952G>C

Select item 148778847318.

rs1487788473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:27426507 (GRCh38)
17:25753533 (GRCh37)
Canonical SPDI:: NC_000017.11:27426506:A:G
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.27426507A>G, NC_000017.10:g.25753533A>G, NR_033892.1:n.1543A>G

Select item 148724669119.

rs1487246691 [Homo sapiens]

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

Select item 148709812220.

rs1487098122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:27424620 (GRCh38)
17:25751646 (GRCh37)
Canonical SPDI:: NC_000017.11:27424619:C:G
Gene:: TBC1D3P5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.27424620C>G, NC_000017.10:g.25751646C>G

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