SNP Links for Gene (Select 133874) - SNP

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Select item 14910232741.

rs1491023274 has merged into rs11446646 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:170239409 (GRCh38)
5:169666413 (GRCh37)
Canonical SPDI:: NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:170239398:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.170239409_170239410del, NC_000005.10:g.170239410del, NC_000005.10:g.170239410dup, NC_000005.10:g.170239409_170239410dup, NC_000005.10:g.170239408_170239410dup, NC_000005.10:g.170239407_170239410dup, NC_000005.10:g.170239410_170239411insAAAAAAAAAAAAAAAAA, NC_000005.9:g.169666413_169666414del, NC_000005.9:g.169666414del, NC_000005.9:g.169666414dup, NC_000005.9:g.169666413_169666414dup, NC_000005.9:g.169666412_169666414dup, NC_000005.9:g.169666411_169666414dup, NC_000005.9:g.169666414_169666415insAAAAAAAAAAAAAAAAA

Select item 14909582802.

rs1490958280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:170231186 (GRCh38)
5:169658190 (GRCh37)
Canonical SPDI:: NC_000005.10:170231185:G:A,NC_000005.10:170231185:G:C
Gene:: C5orf58 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.170231186G>A, NC_000005.10:g.170231186G>C, NC_000005.9:g.169658190G>A, NC_000005.9:g.169658190G>C

Select item 14908255523.

rs1490825552 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:170240357 (GRCh38)
5:169667361 (GRCh37)
Canonical SPDI:: NC_000005.10:170240356:T:A
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001531/25 (ALFA)
A=0.000312/2 (1000Genomes)
A=0.001231/157 (GnomAD)
HGVS:: NC_000005.10:g.170240357T>A, NC_000005.9:g.169667361T>A

Select item 14907743564.

rs1490774356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:170238351 (GRCh38)
5:169665355 (GRCh37)
Canonical SPDI:: NC_000005.10:170238350:C:T
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.170238351C>T, NC_000005.9:g.169665355C>T

Select item 14906633345.

rs1490663334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:170239655 (GRCh38)
5:169666659 (GRCh37)
Canonical SPDI:: NC_000005.10:170239654:C:T
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000005.10:g.170239655C>T, NC_000005.9:g.169666659C>T

Select item 14906130826.

rs1490613082 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:170237072 (GRCh38)
5:169664076 (GRCh37)
Canonical SPDI:: NC_000005.10:170237071:T:C
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.170237072T>C, NC_000005.9:g.169664076T>C

Select item 14905347647.

rs1490534764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 5:170239408 (GRCh38)
5:169666413 (GRCh37)
Canonical SPDI:: NC_000005.10:170239408:A:AGA
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0.000084/1 (ALFA)
AG=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.170239409_170239410insGA, NC_000005.9:g.169666413_169666414insGA

Select item 14903446498.

rs1490344649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:170239497 (GRCh38)
5:169666501 (GRCh37)
Canonical SPDI:: NC_000005.10:170239496:A:G
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.170239497A>G, NC_000005.9:g.169666501A>G

Select item 14903364159.

rs1490336415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:170241160 (GRCh38)
5:169668164 (GRCh37)
Canonical SPDI:: NC_000005.10:170241159:G:A
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.170241160G>A, NC_000005.9:g.169668164G>A

Select item 149028455710.

rs1490284557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:170239638 (GRCh38)
5:169666642 (GRCh37)
Canonical SPDI:: NC_000005.10:170239637:T:C
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.170239638T>C, NC_000005.9:g.169666642T>C

Select item 149013834511.

rs1490138345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:170230569 (GRCh38)
5:169657573 (GRCh37)
Canonical SPDI:: NC_000005.10:170230568:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.170230569T>C, NC_000005.9:g.169657573T>C

Select item 149013777612.

rs1490137776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:170250904 (GRCh38)
5:169677908 (GRCh37)
Canonical SPDI:: NC_000005.10:170250903:G:A
Gene:: LCP2 (Varview), C5orf58 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.170250904G>A, NC_000005.9:g.169677908G>A

Select item 148971187613.

rs1489711876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:170238945 (GRCh38)
5:169665949 (GRCh37)
Canonical SPDI:: NC_000005.10:170238944:A:G
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.170238945A>G, NC_000005.9:g.169665949A>G

Select item 148928803414.

rs1489288034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:170240952 (GRCh38)
5:169667956 (GRCh37)
Canonical SPDI:: NC_000005.10:170240951:A:G,NC_000005.10:170240951:A:T
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.170240952A>G, NC_000005.10:g.170240952A>T, NC_000005.9:g.169667956A>G, NC_000005.9:g.169667956A>T

Select item 148917359615.

rs1489173596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:170232677 (GRCh38)
5:169659681 (GRCh37)
Canonical SPDI:: NC_000005.10:170232676:C:A
Gene:: C5orf58 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.170232677C>A, NC_000005.9:g.169659681C>A

Select item 148897128516.

rs1488971285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:170241955 (GRCh38)
5:169668959 (GRCh37)
Canonical SPDI:: NC_000005.10:170241954:A:G
Gene:: C5orf58 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.170241955A>G, NC_000005.9:g.169668959A>G

Select item 148890578717.

rs1488905787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:170248340 (GRCh38)
5:169675344 (GRCh37)
Canonical SPDI:: NC_000005.10:170248339:T:G
Gene:: LCP2 (Varview), C5orf58 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000005.10:g.170248340T>G, NC_000005.9:g.169675344T>G, NM_005565.5:c.*357A>C, NM_005565.4:c.*357A>C, NM_005565.3:c.*357A>C, XM_047417171.1:c.*357A>C

Select item 148890259718.

rs1488902597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:170231513 (GRCh38)
5:169658517 (GRCh37)
Canonical SPDI:: NC_000005.10:170231512:C:T
Gene:: C5orf58 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.170231513C>T, NC_000005.9:g.169658517C>T

Select item 148876748819.

rs1488767488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:170250894 (GRCh38)
5:169677898 (GRCh37)
Canonical SPDI:: NC_000005.10:170250893:A:C
Gene:: LCP2 (Varview), C5orf58 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.170250894A>C, NC_000005.9:g.169677898A>C

Select item 148871785120.

rs1488717851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:170249031 (GRCh38)
5:169676035 (GRCh37)
Canonical SPDI:: NC_000005.10:170249030:T:C,NC_000005.10:170249030:T:G
Gene:: LCP2 (Varview), C5orf58 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.170249031T>C, NC_000005.10:g.170249031T>G, NC_000005.9:g.169676035T>C, NC_000005.9:g.169676035T>G

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