SNP Links for Gene (Select 100288570) - SNP

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Select item 14915287031.

rs1491528703 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:110410483 (GRCh38)
2:111168060 (GRCh37)
Canonical SPDI:: NC_000002.12:110410482:CA:
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00194/20 (TOMMO)
HGVS:: NC_000002.12:g.110410483_110410484del, NC_000002.11:g.111168060_111168061del

Select item 14914604402.

rs1491460440 has merged into rs1185308430 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:110419673 (GRCh38)
2:111177250 (GRCh37)
Canonical SPDI:: NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110419656:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.110419673_110419677del, NC_000002.12:g.110419675_110419677del, NC_000002.12:g.110419676_110419677del, NC_000002.12:g.110419677del, NC_000002.12:g.110419677dup, NC_000002.12:g.110419676_110419677dup, NC_000002.12:g.110419675_110419677dup, NC_000002.12:g.110419674_110419677dup, NC_000002.12:g.110419673_110419677dup, NC_000002.12:g.110419672_110419677dup, NC_000002.12:g.110419671_110419677dup, NC_000002.12:g.110419670_110419677dup, NC_000002.12:g.110419669_110419677dup, NC_000002.12:g.110419668_110419677dup, NC_000002.12:g.110419667_110419677dup, NC_000002.12:g.110419666_110419677dup, NC_000002.12:g.110419665_110419677dup, NC_000002.12:g.110419664_110419677dup, NC_000002.12:g.110419661_110419677dup, NC_000002.12:g.110419659_110419677dup, NC_000002.11:g.111177250_111177254del, NC_000002.11:g.111177252_111177254del, NC_000002.11:g.111177253_111177254del, NC_000002.11:g.111177254del, NC_000002.11:g.111177254dup, NC_000002.11:g.111177253_111177254dup, NC_000002.11:g.111177252_111177254dup, NC_000002.11:g.111177251_111177254dup, NC_000002.11:g.111177250_111177254dup, NC_000002.11:g.111177249_111177254dup, NC_000002.11:g.111177248_111177254dup, NC_000002.11:g.111177247_111177254dup, NC_000002.11:g.111177246_111177254dup, NC_000002.11:g.111177245_111177254dup, NC_000002.11:g.111177244_111177254dup, NC_000002.11:g.111177243_111177254dup, NC_000002.11:g.111177242_111177254dup, NC_000002.11:g.111177241_111177254dup, NC_000002.11:g.111177238_111177254dup, NC_000002.11:g.111177236_111177254dup

Select item 14912034003.

rs1491203400 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAACA [Show Flanks]
Chromosome:: 2:110419657 (GRCh38)
2:111177235 (GRCh37)
Canonical SPDI:: NC_000002.12:110419657:A:ACAACA
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACAACA=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.110419658_110419659insCAACA, NC_000002.11:g.111177235_111177236insCAACA

Select item 14911872114.

rs1491187211 has merged into rs1258625962 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:110410500 (GRCh38)
2:111168077 (GRCh37)
Canonical SPDI:: NC_000002.12:110410483:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:110410483:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:110410483:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110410483:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110410483:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110410483:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110410483:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.110410500_110410507del, NC_000002.12:g.110410504_110410507del, NC_000002.12:g.110410506_110410507del, NC_000002.12:g.110410507del, NC_000002.12:g.110410507dup, NC_000002.12:g.110410506_110410507dup, NC_000002.12:g.110410503_110410507dup, NC_000002.11:g.111168077_111168084del, NC_000002.11:g.111168081_111168084del, NC_000002.11:g.111168083_111168084del, NC_000002.11:g.111168084del, NC_000002.11:g.111168084dup, NC_000002.11:g.111168083_111168084dup, NC_000002.11:g.111168080_111168084dup

Select item 14909576165.

rs1490957616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110403568 (GRCh38)
2:111161145 (GRCh37)
Canonical SPDI:: NC_000002.12:110403567:C:T
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.110403568C>T, NC_000002.11:g.111161145C>T

Select item 14907501756.

rs1490750175 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:110422871 (GRCh38)
2:111180448 (GRCh37)
Canonical SPDI:: NC_000002.12:110422870:T:A
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.110422871T>A, NC_000002.11:g.111180448T>A

Select item 14906085317.

rs1490608531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:110425339 (GRCh38)
2:111182916 (GRCh37)
Canonical SPDI:: NC_000002.12:110425338:C:G
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000169/2 (ALFA)
G=0.000292/38 (GnomAD)
HGVS:: NC_000002.12:g.110425339C>G, NC_000002.11:g.111182916C>G

Select item 14905724828.

rs1490572482 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110422225 (GRCh38)
2:111179802 (GRCh37)
Canonical SPDI:: NC_000002.12:110422224:G:A
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.110422225G>A, NC_000002.11:g.111179802G>A

Select item 14904166679.

rs1490416667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:110422726 (GRCh38)
2:111180303 (GRCh37)
Canonical SPDI:: NC_000002.12:110422725:C:A
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00211/25 (ALFA)
HGVS:: NC_000002.12:g.110422726C>A, NC_000002.11:g.111180303C>A

Select item 149025854610.

rs1490258546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:110422371 (GRCh38)
2:111179948 (GRCh37)
Canonical SPDI:: NC_000002.12:110422370:T:C
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.110422371T>C, NC_000002.11:g.111179948T>C

Select item 149024281411.

rs1490242814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110419401 (GRCh38)
2:111176978 (GRCh37)
Canonical SPDI:: NC_000002.12:110419400:G:A
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/2 (GnomAD)
HGVS:: NC_000002.12:g.110419401G>A, NC_000002.11:g.111176978G>A

Select item 149011819312.

rs1490118193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:110424817 (GRCh38)
2:111182394 (GRCh37)
Canonical SPDI:: NC_000002.12:110424816:G:A,NC_000002.12:110424816:G:C
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
C=0.000008/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.110424817G>A, NC_000002.12:g.110424817G>C, NC_000002.11:g.111182394G>A, NC_000002.11:g.111182394G>C

Select item 148992434713.

rs1489924347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:110419326 (GRCh38)
2:111176903 (GRCh37)
Canonical SPDI:: NC_000002.12:110419325:C:A
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00003/2 (GnomAD)
HGVS:: NC_000002.12:g.110419326C>A, NC_000002.11:g.111176903C>A

Select item 148953023914.

rs1489530239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110425265 (GRCh38)
2:111182842 (GRCh37)
Canonical SPDI:: NC_000002.12:110425264:G:A
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000038/5 (GnomAD)
HGVS:: NC_000002.12:g.110425265G>A, NC_000002.11:g.111182842G>A

Select item 148935821115.

rs1489358211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:110424439 (GRCh38)
2:111182016 (GRCh37)
Canonical SPDI:: NC_000002.12:110424438:T:G
Gene:: LOC100288570 (Varview), LIMS4 (Varview), LOC124906063 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000043/5 (GnomAD)
HGVS:: NC_000002.12:g.110424439T>G, NC_000002.11:g.111182016T>G, XR_007087174.1:n.304T>G

Select item 148895115816.

rs1488951158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:110409419 (GRCh38)
2:111166996 (GRCh37)
Canonical SPDI:: NC_000002.12:110409418:T:C
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.110409419T>C, NC_000002.11:g.111166996T>C

Select item 148862066417.

rs1488620664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:110410041 (GRCh38)
2:111167618 (GRCh37)
Canonical SPDI:: NC_000002.12:110410040:C:A
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.110410041C>A, NC_000002.11:g.111167618C>A

Select item 148859193518.

rs1488591935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:110408017 (GRCh38)
2:111165594 (GRCh37)
Canonical SPDI:: NC_000002.12:110408016:G:A,NC_000002.12:110408016:G:T
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00005/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.110408017G>A, NC_000002.12:g.110408017G>T, NC_000002.11:g.111165594G>A, NC_000002.11:g.111165594G>T, NR_037627.1:n.159C>T, NR_037627.1:n.159C>A

Select item 148854822219.

rs1488548222 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:110409249 (GRCh38)
2:111166826 (GRCh37)
Canonical SPDI:: NC_000002.12:110409248:A:G,NC_000002.12:110409248:A:T
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000041/5 (GnomAD)
HGVS:: NC_000002.12:g.110409249A>G, NC_000002.12:g.110409249A>T, NC_000002.11:g.111166826A>G, NC_000002.11:g.111166826A>T

Select item 148849698820.

rs1488496988 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:110414910 (GRCh38)
2:111172487 (GRCh37)
Canonical SPDI:: NC_000002.12:110414909:T:C,NC_000002.12:110414909:T:G
Gene:: LOC100288570 (Varview), LIMS4 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00737/87 (ALFA)
C=0./0 (KOREAN)
G=0.0053/178 (GnomAD)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000002.12:g.110414910T>C, NC_000002.12:g.110414910T>G, NC_000002.11:g.111172487T>C, NC_000002.11:g.111172487T>G

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