SNP Links for Gene (Select 105379192) - SNP

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Select item 14904625371.

rs1490462537 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:137129401 (GRCh38)
5:136465090 (GRCh37)
Canonical SPDI:: NC_000005.10:137129400:G:
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.137129401del, NC_000005.9:g.136465090del, NG_034127.1:g.374929del

Select item 14902548802.

rs1490254880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:137129514 (GRCh38)
5:136465203 (GRCh37)
Canonical SPDI:: NC_000005.10:137129513:C:T
Gene:: SPOCK1 (Varview), LOC105379192 (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_000005.10:g.137129514C>T, NC_000005.9:g.136465203C>T, NG_034127.1:g.374816G>A

Select item 14899991073.

rs1489999107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 5:137128989 (GRCh38)
5:136464678 (GRCh37)
Canonical SPDI:: NC_000005.10:137128988:G:C,NC_000005.10:137128988:G:T
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.137128989G>C, NC_000005.10:g.137128989G>T, NC_000005.9:g.136464678G>C, NC_000005.9:g.136464678G>T, NG_034127.1:g.375341C>G, NG_034127.1:g.375341C>A

Select item 14879752414.

rs1487975241 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:137129064 (GRCh38)
5:136464753 (GRCh37)
Canonical SPDI:: NC_000005.10:137129063:A:C
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000057/15 (TOPMED)
C=0.000078/11 (GnomAD)
HGVS:: NC_000005.10:g.137129064A>C, NC_000005.9:g.136464753A>C, NG_034127.1:g.375266T>G

Select item 14867624615.

rs1486762461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:137130309 (GRCh38)
5:136465998 (GRCh37)
Canonical SPDI:: NC_000005.10:137130308:G:A
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.137130309G>A, NC_000005.9:g.136465998G>A, NG_034127.1:g.374021C>T

Select item 14860376166.

rs1486037616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:137126643 (GRCh38)
5:136462332 (GRCh37)
Canonical SPDI:: NC_000005.10:137126642:T:G
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000005.10:g.137126643T>G, NC_000005.9:g.136462332T>G, NG_034127.1:g.377687A>C

Select item 14856163787.

rs1485616378 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTG>- [Show Flanks]
Chromosome:: 5:137127875 (GRCh38)
5:136463564 (GRCh37)
Canonical SPDI:: NC_000005.10:137127873:GTTG:G
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.137127875_137127877del, NC_000005.9:g.136463564_136463566del, NG_034127.1:g.376454_376456del

Select item 14849091628.

rs1484909162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:137127397 (GRCh38)
5:136463086 (GRCh37)
Canonical SPDI:: NC_000005.10:137127396:C:T
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.137127397C>T, NC_000005.9:g.136463086C>T, NG_034127.1:g.376933G>A

Select item 14843068809.

rs1484306880 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGG>- [Show Flanks]
Chromosome:: 5:137128046 (GRCh38)
5:136463735 (GRCh37)
Canonical SPDI:: NC_000005.10:137128044:GGAGG:G
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.137128046_137128049del, NC_000005.9:g.136463735_136463738del, NG_034127.1:g.376282_376285del

Select item 148356212910.

rs1483562129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:137131435 (GRCh38)
5:136467124 (GRCh37)
Canonical SPDI:: NC_000005.10:137131434:T:C
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.0009/4 (ALFA)
C=0.0009/4 (Estonian)
HGVS:: NC_000005.10:g.137131435T>C, NC_000005.9:g.136467124T>C, NG_034127.1:g.372895A>G

Select item 148258520111.

rs1482585201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:137130328 (GRCh38)
5:136466017 (GRCh37)
Canonical SPDI:: NC_000005.10:137130327:C:T
Gene:: SPOCK1 (Varview), LOC105379192 (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_000005.10:g.137130328C>T, NC_000005.9:g.136466017C>T, NG_034127.1:g.374002G>A

Select item 148255767512.

rs1482557675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:137129544 (GRCh38)
5:136465233 (GRCh37)
Canonical SPDI:: NC_000005.10:137129543:G:A
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.137129544G>A, NC_000005.9:g.136465233G>A, NG_034127.1:g.374786C>T

Select item 148201532313.

rs1482015323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:137127542 (GRCh38)
5:136463231 (GRCh37)
Canonical SPDI:: NC_000005.10:137127541:G:T
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.137127542G>T, NC_000005.9:g.136463231G>T, NG_034127.1:g.376788C>A

Select item 148078060314.

rs1480780603 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:137126758 (GRCh38)
5:136462447 (GRCh37)
Canonical SPDI:: NC_000005.10:137126757:A:C,NC_000005.10:137126757:A:G
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.137126758A>C, NC_000005.10:g.137126758A>G, NC_000005.9:g.136462447A>C, NC_000005.9:g.136462447A>G, NG_034127.1:g.377572T>G, NG_034127.1:g.377572T>C

Select item 148075194715.

rs1480751947 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:137129313 (GRCh38)
5:136465002 (GRCh37)
Canonical SPDI:: NC_000005.10:137129312:G:
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.137129313del, NC_000005.9:g.136465002del, NG_034127.1:g.375017del

Select item 148071956216.

rs1480719562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:137130061 (GRCh38)
5:136465750 (GRCh37)
Canonical SPDI:: NC_000005.10:137130060:G:A
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.137130061G>A, NC_000005.9:g.136465750G>A, NG_034127.1:g.374269C>T

Select item 148071352217.

rs1480713522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:137129492 (GRCh38)
5:136465181 (GRCh37)
Canonical SPDI:: NC_000005.10:137129491:A:G
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.137129492A>G, NC_000005.9:g.136465181A>G, NG_034127.1:g.374838T>C

Select item 148010719818.

rs1480107198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:137128064 (GRCh38)
5:136463753 (GRCh37)
Canonical SPDI:: NC_000005.10:137128063:A:G
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
G=0.000064/17 (TOPMED)
HGVS:: NC_000005.10:g.137128064A>G, NC_000005.9:g.136463753A>G, NG_034127.1:g.376266T>C

Select item 148007267719.

rs1480072677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:137128622 (GRCh38)
5:136464311 (GRCh37)
Canonical SPDI:: NC_000005.10:137128621:A:C,NC_000005.10:137128621:A:T
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.137128622A>C, NC_000005.10:g.137128622A>T, NC_000005.9:g.136464311A>C, NC_000005.9:g.136464311A>T, NG_034127.1:g.375708T>G, NG_034127.1:g.375708T>A

Select item 147978986220.

rs1479789862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:137127523 (GRCh38)
5:136463212 (GRCh37)
Canonical SPDI:: NC_000005.10:137127522:C:G
Gene:: SPOCK1 (Varview), LOC105379192 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.137127523C>G, NC_000005.9:g.136463212C>G, NG_034127.1:g.376807G>C

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