SNP Links for Gene (Select 54538) - SNP

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Select item 14915057871.

rs1491505787 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:124897494 (GRCh38)
11:124767390 (GRCh37)
Canonical SPDI:: NC_000011.10:124897493:TT:
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000129/17 (GnomAD)
HGVS:: NC_000011.10:g.124897494_124897495del, NC_000011.9:g.124767390_124767391del

Select item 14913030972.

rs1491303097 [Homo sapiens]

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

Select item 14909842783.

rs1490984278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:124884957 (GRCh38)
11:124754853 (GRCh37)
Canonical SPDI:: NC_000011.10:124884956:C:G,NC_000011.10:124884956:C:T
Gene:: ROBO4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124884957C>G, NC_000011.10:g.124884957C>T, NC_000011.9:g.124754853C>G, NC_000011.9:g.124754853C>T

Select item 14908729644.

rs1490872964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124885104 (GRCh38)
11:124755000 (GRCh37)
Canonical SPDI:: NC_000011.10:124885103:G:A
Gene:: ROBO4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.124885104G>A, NC_000011.9:g.124755000G>A, NM_019055.6:c.2938C>T, NM_019055.5:c.2938C>T, XM_006718861.3:c.2824C>T, XM_006718861.2:c.2824C>T, XM_006718861.1:c.2824C>T, NM_001301088.2:c.2503C>T, NM_001301088.1:c.2503C>T, XM_011542875.2:c.1612C>T, XM_011542875.1:c.1612C>T, NP_061928.4:p.Pro980Ser, XP_006718924.1:p.Pro942Ser, NP_001288017.1:p.Pro835Ser, XP_011541177.1:p.Pro538Ser

Select item 14904309365.

rs1490430936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:124897072 (GRCh38)
11:124766968 (GRCh37)
Canonical SPDI:: NC_000011.10:124897071:G:A,NC_000011.10:124897071:G:T
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.124897072G>A, NC_000011.10:g.124897072G>T, NC_000011.9:g.124766968G>A, NC_000011.9:g.124766968G>T, NM_019055.6:c.260C>T, NM_019055.6:c.260C>A, NM_019055.5:c.260C>T, NM_019055.5:c.260C>A, XM_006718861.3:c.260C>T, XM_006718861.3:c.260C>A, XM_006718861.2:c.260C>T, XM_006718861.2:c.260C>A, XM_006718861.1:c.260C>T, XM_006718861.1:c.260C>A, NP_061928.4:p.Thr87Ile, NP_061928.4:p.Thr87Asn, XP_006718924.1:p.Thr87Ile, XP_006718924.1:p.Thr87Asn

Select item 14901349996.

rs1490134999 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 11:124892888 (GRCh38)
11:124762784 (GRCh37)
Canonical SPDI:: NC_000011.10:124892887:C:
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
-=0.000156/1 (1000Genomes)
-=0.001092/2 (Korea1K)
-=0.007573/127 (TOMMO)
HGVS:: NC_000011.10:g.124892888del, NC_000011.9:g.124762784del

Select item 14900115867.

rs1490011586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124886685 (GRCh38)
11:124756581 (GRCh37)
Canonical SPDI:: NC_000011.10:124886684:C:T
Gene:: ROBO4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124886685C>T, NC_000011.9:g.124756581C>T, NM_019055.6:c.2573G>A, NM_019055.5:c.2573G>A, XM_006718861.3:c.2459G>A, XM_006718861.2:c.2459G>A, XM_006718861.1:c.2459G>A, NM_001301088.2:c.2138G>A, NM_001301088.1:c.2138G>A, XM_011542875.2:c.1247G>A, XM_011542875.1:c.1247G>A, NP_061928.4:p.Cys858Tyr, XP_006718924.1:p.Cys820Tyr, NP_001288017.1:p.Cys713Tyr, XP_011541177.1:p.Cys416Tyr

Select item 14899704178.

rs1489970417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:124892367 (GRCh38)
11:124762263 (GRCh37)
Canonical SPDI:: NC_000011.10:124892366:G:A,NC_000011.10:124892366:G:T
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.124892367G>A, NC_000011.10:g.124892367G>T, NC_000011.9:g.124762263G>A, NC_000011.9:g.124762263G>T

Select item 14895373689.

rs1489537368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:124886756 (GRCh38)
11:124756652 (GRCh37)
Canonical SPDI:: NC_000011.10:124886755:T:G
Gene:: ROBO4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124886756T>G, NC_000011.9:g.124756652T>G, NM_019055.6:c.2502A>C, NM_019055.5:c.2502A>C, XM_006718861.3:c.2388A>C, XM_006718861.2:c.2388A>C, XM_006718861.1:c.2388A>C, NM_001301088.2:c.2067A>C, NM_001301088.1:c.2067A>C, XM_011542875.2:c.1176A>C, XM_011542875.1:c.1176A>C

Select item 148947151710.

rs1489471517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:124895028 (GRCh38)
11:124764924 (GRCh37)
Canonical SPDI:: NC_000011.10:124895027:A:G
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000011.10:g.124895028A>G, NC_000011.9:g.124764924A>G

Select item 148944585011.

rs1489445850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:124894393 (GRCh38)
11:124764289 (GRCh37)
Canonical SPDI:: NC_000011.10:124894392:A:T
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.124894393A>T, NC_000011.9:g.124764289A>T

Select item 148942056012.

rs1489420560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:124895768 (GRCh38)
11:124765664 (GRCh37)
Canonical SPDI:: NC_000011.10:124895767:T:C
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124895768T>C, NC_000011.9:g.124765664T>C

Select item 148937680413.

rs1489376804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124897269 (GRCh38)
11:124767165 (GRCh37)
Canonical SPDI:: NC_000011.10:124897268:G:A
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.124897269G>A, NC_000011.9:g.124767165G>A

Select item 148931689614.

rs1489316896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:124894375 (GRCh38)
11:124764271 (GRCh37)
Canonical SPDI:: NC_000011.10:124894374:G:A,NC_000011.10:124894374:G:T
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124894375G>A, NC_000011.10:g.124894375G>T, NC_000011.9:g.124764271G>A, NC_000011.9:g.124764271G>T

Select item 148910596315.

rs1489105963 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:124885672 (GRCh38)
11:124755568 (GRCh37)
Canonical SPDI:: NC_000011.10:124885671:A:G
Gene:: ROBO4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.124885672A>G, NC_000011.9:g.124755568A>G

Select item 148869200616.

rs1488692006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:124886054 (GRCh38)
11:124755950 (GRCh37)
Canonical SPDI:: NC_000011.10:124886053:G:A
Gene:: ROBO4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124886054G>A, NC_000011.9:g.124755950G>A

Select item 148863968017.

rs1488639680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124894086 (GRCh38)
11:124763982 (GRCh37)
Canonical SPDI:: NC_000011.10:124894085:C:T
Gene:: ROBO4 (Varview), LOC107984406 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124894086C>T, NC_000011.9:g.124763982C>T

Select item 148841453918.

rs1488414539 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:124887493 (GRCh38)
11:124757389 (GRCh37)
Canonical SPDI:: NC_000011.10:124887492:A:G
Gene:: ROBO4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.124887493A>G, NC_000011.9:g.124757389A>G, NM_019055.6:c.2063T>C, NM_019055.5:c.2063T>C, XM_006718861.3:c.2063T>C, XM_006718861.2:c.2063T>C, XM_006718861.1:c.2063T>C, NM_001301088.2:c.1628T>C, NM_001301088.1:c.1628T>C, XM_011542875.2:c.737T>C, XM_011542875.1:c.737T>C, NP_061928.4:p.Val688Ala, XP_006718924.1:p.Val688Ala, NP_001288017.1:p.Val543Ala, XP_011541177.1:p.Val246Ala

Select item 148804417919.

rs1488044179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:124886931 (GRCh38)
11:124756827 (GRCh37)
Canonical SPDI:: NC_000011.10:124886930:C:T
Gene:: ROBO4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.124886931C>T, NC_000011.9:g.124756827C>T

Select item 148793825620.

rs1487938256 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:124887070 (GRCh38)
11:124756966 (GRCh37)
Canonical SPDI:: NC_000011.10:124887069:G:C
Gene:: ROBO4 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.124887070G>C, NC_000011.9:g.124756966G>C, NM_019055.6:c.2342C>G, NM_019055.5:c.2342C>G, XM_006718861.3:c.2228C>G, XM_006718861.2:c.2228C>G, XM_006718861.1:c.2228C>G, NM_001301088.2:c.1907C>G, NM_001301088.1:c.1907C>G, XM_011542875.2:c.1016C>G, XM_011542875.1:c.1016C>G, NP_061928.4:p.Ser781Ter, XP_006718924.1:p.Ser743Ter, NP_001288017.1:p.Ser636Ter, XP_011541177.1:p.Ser339Ter

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