SNP Links for Gene (Select 100130733) - SNP

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Select item 14909134791.

rs1490913479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:62581735 (GRCh38)
5:61877562 (GRCh37)
Canonical SPDI:: NC_000005.10:62581734:G:A
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.62581735G>A, NC_000005.9:g.61877562G>A

Select item 14896657542.

rs1489665754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:62580583 (GRCh38)
5:61876410 (GRCh37)
Canonical SPDI:: NC_000005.10:62580582:A:G
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.62580583A>G, NC_000005.9:g.61876410A>G, NM_181506.5:c.1145A>G, NM_181506.4:c.1145A>G, NP_852607.3:p.Asn382Ser

Select item 14890942893.

rs1489094289 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:62580029 (GRCh38)
5:61875856 (GRCh37)
Canonical SPDI:: NC_000005.10:62580028:A:G
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.62580029A>G, NC_000005.9:g.61875856A>G, NM_181506.5:c.591A>G, NM_181506.4:c.591A>G

Select item 14887687574.

rs1488768757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:62580628 (GRCh38)
5:61876455 (GRCh37)
Canonical SPDI:: NC_000005.10:62580627:G:A,NC_000005.10:62580627:G:C
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.62580628G>A, NC_000005.10:g.62580628G>C, NC_000005.9:g.61876455G>A, NC_000005.9:g.61876455G>C, NM_181506.5:c.1190G>A, NM_181506.5:c.1190G>C, NM_181506.4:c.1190G>A, NM_181506.4:c.1190G>C, NP_852607.3:p.Arg397His, NP_852607.3:p.Arg397Pro

Select item 14873889885.

rs1487388988 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:62578189 (GRCh38)
5:61874016 (GRCh37)
Canonical SPDI:: NC_000005.10:62578188:G:T
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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.62578189G>T, NC_000005.9:g.61874016G>T

Select item 14872254356.

rs1487225435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:62578034 (GRCh38)
5:61873861 (GRCh37)
Canonical SPDI:: NC_000005.10:62578033:C:G,NC_000005.10:62578033:C:T
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.62578034C>G, NC_000005.10:g.62578034C>T, NC_000005.9:g.61873861C>G, NC_000005.9:g.61873861C>T

Select item 14871252567.

rs1487125256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:62581181 (GRCh38)
5:61877008 (GRCh37)
Canonical SPDI:: NC_000005.10:62581180:T:C
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.62581181T>C, NC_000005.9:g.61877008T>C, NM_181506.5:c.1743T>C, NM_181506.4:c.1743T>C

Select item 14867033118.

rs1486703311 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 5:62577777 (GRCh38)
5:61873604 (GRCh37)
Canonical SPDI:: NC_000005.10:62577776:AA:A
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.62577778del, NC_000005.9:g.61873605del

Select item 14863900609.

rs1486390060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:62579437 (GRCh38)
5:61875264 (GRCh37)
Canonical SPDI:: NC_000005.10:62579436:A:T
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.62579437A>T, NC_000005.9:g.61875264A>T, NM_181506.5:c.-2A>T, NM_181506.4:c.-2A>T

Select item 148631427410.

rs1486314274 has merged into rs979142366 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 5:62579342 (GRCh38)
5:61875169 (GRCh37)
Canonical SPDI:: NC_000005.10:62579341:AAAAAAAA:AAAAAAA,NC_000005.10:62579341:AAAAAAAA:AAAAAAAAA
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00078/5 (1000Genomes)
HGVS:: NC_000005.10:g.62579349del, NC_000005.10:g.62579349dup, NC_000005.9:g.61875176del, NC_000005.9:g.61875176dup

Select item 148591202611.

rs1485912026 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCA>- [Show Flanks]
Chromosome:: 5:62577880 (GRCh38)
5:61873707 (GRCh37)
Canonical SPDI:: NC_000005.10:62577878:ATCA:A
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.62577880_62577882del, NC_000005.9:g.61873707_61873709del

Select item 148568737512.

rs1485687375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:62578915 (GRCh38)
5:61874742 (GRCh37)
Canonical SPDI:: NC_000005.10:62578914:A:C
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.62578915A>C, NC_000005.9:g.61874742A>C, NM_181506.5:c.-59A>C, NM_181506.4:c.-59A>C, NR_073584.1:n.181A>C

Select item 148560952113.

rs1485609521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:62579560 (GRCh38)
5:61875387 (GRCh37)
Canonical SPDI:: NC_000005.10:62579559:G:A
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.62579560G>A, NC_000005.9:g.61875387G>A, NM_181506.5:c.122G>A, NM_181506.4:c.122G>A, NP_852607.3:p.Gly41Glu

Select item 148549432014.

rs1485494320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:62579469 (GRCh38)
5:61875296 (GRCh37)
Canonical SPDI:: NC_000005.10:62579468:C:T
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_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.62579469C>T, NC_000005.9:g.61875296C>T, NM_181506.5:c.31C>T, NM_181506.4:c.31C>T

Select item 148263994515.

rs1482639945 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:62576806 (GRCh38)
5:61872633 (GRCh37)
Canonical SPDI:: NC_000005.10:62576805:G:A
Gene:: IPO11 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.62576806G>A, NC_000005.9:g.61872633G>A

Select item 148190096916.

rs1481900969 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:62577301 (GRCh38)
5:61873129 (GRCh37)
Canonical SPDI:: NC_000005.10:62577301:TTTTT:TTTTTT
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.62577306dup, NC_000005.9:g.61873133dup

Select item 148122284517.

rs1481222845 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:62577212 (GRCh38)
5:61873039 (GRCh37)
Canonical SPDI:: NC_000005.10:62577211:C:T
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.62577212C>T, NC_000005.9:g.61873039C>T

Select item 148094327518.

rs1480943275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:62578696 (GRCh38)
5:61874523 (GRCh37)
Canonical SPDI:: NC_000005.10:62578695:T:G
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.62578696T>G, NC_000005.9:g.61874523T>G

Select item 148046493219.

rs1480464932 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:62578425 (GRCh38)
5:61874252 (GRCh37)
Canonical SPDI:: NC_000005.10:62578424:T:C
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.62578425T>C, NC_000005.9:g.61874252T>C

Select item 148003451720.

rs1480034517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:62579059 (GRCh38)
5:61874886 (GRCh37)
Canonical SPDI:: NC_000005.10:62579058:G:A
Gene:: IPO11 (Varview), LRRC70 (Varview), IPO11-LRRC70 (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.62579059G>A, NC_000005.9:g.61874886G>A

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