SNP Links for Gene (Select 388555) - SNP

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Select item 14910594971.

rs1491059497 has merged into rs369835759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:46124401 (GRCh38)
19:46627658 (GRCh37)
Canonical SPDI:: NC_000019.10:46124398:AGAG:AG
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.46124399AG[1], NC_000019.9:g.46627656AG[1]

Select item 14902057732.

rs1490205773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46120200 (GRCh38)
19:46623457 (GRCh37)
Canonical SPDI:: NC_000019.10:46120199:A:G
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.46120200A>G, NC_000019.9:g.46623457A>G, XM_011526953.3:c.*9T>C, XM_011526953.2:c.*9T>C, XM_011526953.1:c.*9T>C, NM_207393.2:c.*130T>C, NM_207393.1:c.*130T>C

Select item 14889950843.

rs1488995084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:46122034 (GRCh38)
19:46625291 (GRCh37)
Canonical SPDI:: NC_000019.10:46122033:T:A,NC_000019.10:46122033:T:C
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000034/9 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.46122034T>A, NC_000019.10:g.46122034T>C, NC_000019.9:g.46625291T>A, NC_000019.9:g.46625291T>C

Select item 14887600934.

rs1488760093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:46128417 (GRCh38)
19:46631674 (GRCh37)
Canonical SPDI:: NC_000019.10:46128416:G:A,NC_000019.10:46128416:G:T
Gene:: IGFL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.46128417G>A, NC_000019.10:g.46128417G>T, NC_000019.9:g.46631674G>A, NC_000019.9:g.46631674G>T

Select item 14881470255.

rs1488147025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:46128285 (GRCh38)
19:46631542 (GRCh37)
Canonical SPDI:: NC_000019.10:46128284:G:T
Gene:: IGFL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46128285G>T, NC_000019.9:g.46631542G>T

Select item 14880766576.

rs1488076657 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:46124611 (GRCh38)
19:46627868 (GRCh37)
Canonical SPDI:: NC_000019.10:46124610:GGGG:GGG
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.46124614del, NC_000019.9:g.46627871del

Select item 14875624187.

rs1487562418 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:46124034 (GRCh38)
19:46627291 (GRCh37)
Canonical SPDI:: NC_000019.10:46124033:GG:G
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000019.10:g.46124035del, NC_000019.9:g.46627292del, XM_011526953.3:c.202del, XM_011526953.2:c.202del, XM_011526953.1:c.202del, NM_207393.2:c.202del, NM_207393.1:c.202del, XP_011525255.1:p.Arg68fs, NP_997276.1:p.Arg68fs

Select item 14871353158.

rs1487135315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46124737 (GRCh38)
19:46627994 (GRCh37)
Canonical SPDI:: NC_000019.10:46124736:C:T
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000019.10:g.46124737C>T, NC_000019.9:g.46627994C>T

Select item 14866914729.

rs1486691472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:46122077 (GRCh38)
19:46625334 (GRCh37)
Canonical SPDI:: NC_000019.10:46122076:C:A,NC_000019.10:46122076:C:T
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.00069/2 (KOREAN)
HGVS:: NC_000019.10:g.46122077C>A, NC_000019.10:g.46122077C>T, NC_000019.9:g.46625334C>A, NC_000019.9:g.46625334C>T

Select item 148635630010.

rs1486356300 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46125885 (GRCh38)
19:46629142 (GRCh37)
Canonical SPDI:: NC_000019.10:46125884:A:G
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.46125885A>G, NC_000019.9:g.46629142A>G

Select item 148619316011.

rs1486193160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:46124437 (GRCh38)
19:46627694 (GRCh37)
Canonical SPDI:: NC_000019.10:46124436:G:T
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0./0 (KOREAN)
T=0.000549/1 (Korea1K)
HGVS:: NC_000019.10:g.46124437G>T, NC_000019.9:g.46627694G>T

Select item 148584753812.

rs1485847538 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:46127800 (GRCh38)
19:46631057 (GRCh37)
Canonical SPDI:: NC_000019.10:46127799:T:C
Gene:: IGFL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000019.10:g.46127800T>C, NC_000019.9:g.46631057T>C

Select item 148571195613.

rs1485711956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:46124197 (GRCh38)
19:46627454 (GRCh37)
Canonical SPDI:: NC_000019.10:46124196:G:C
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.46124197G>C, NC_000019.9:g.46627454G>C

Select item 148570305114.

rs1485703051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46123588 (GRCh38)
19:46626845 (GRCh37)
Canonical SPDI:: NC_000019.10:46123587:C:T
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.46123588C>T, NC_000019.9:g.46626845C>T

Select item 148561138715.

rs1485611387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46121744 (GRCh38)
19:46625001 (GRCh37)
Canonical SPDI:: NC_000019.10:46121743:C:T
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.46121744C>T, NC_000019.9:g.46625001C>T

Select item 148560354916.

rs1485603549 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:46123035 (GRCh38)
19:46626292 (GRCh37)
Canonical SPDI:: NC_000019.10:46123034:C:T
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000019.10:g.46123035C>T, NC_000019.9:g.46626292C>T

Select item 148559133517.

rs1485591335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46120979 (GRCh38)
19:46624236 (GRCh37)
Canonical SPDI:: NC_000019.10:46120978:A:G
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46120979A>G, NC_000019.9:g.46624236A>G

Select item 148531287018.

rs1485312870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:46119832 (GRCh38)
19:46623089 (GRCh37)
Canonical SPDI:: NC_000019.10:46119831:A:T
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_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_000019.10:g.46119832A>T, NC_000019.9:g.46623089A>T

Select item 148441493619.

rs1484414936 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAA>- [Show Flanks]
Chromosome:: 19:46124382 (GRCh38)
19:46627639 (GRCh37)
Canonical SPDI:: NC_000019.10:46124379:AACAA:AA
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0./0 (GnomAD)
HGVS:: NC_000019.10:g.46124382_46124384del, NC_000019.9:g.46627639_46627641del

Select item 148411635320.

rs1484116353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46120725 (GRCh38)
19:46623982 (GRCh37)
Canonical SPDI:: NC_000019.10:46120724:A:G
Gene:: IGFL2 (Varview), IGFL3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000057/8 (GnomAD)
HGVS:: NC_000019.10:g.46120725A>G, NC_000019.9:g.46623982A>G

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