SNP Links for Gene (Select 101929243) - SNP

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Select item 14910283531.

rs1491028353 has merged into rs60744554 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:34695065 (GRCh38)
6:34662842 (GRCh37)
Canonical SPDI:: NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:34695050:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4515/2261 (1000Genomes)
HGVS:: NC_000006.12:g.34695065_34695071del, NC_000006.12:g.34695066_34695071del, NC_000006.12:g.34695067_34695071del, NC_000006.12:g.34695068_34695071del, NC_000006.12:g.34695069_34695071del, NC_000006.12:g.34695070_34695071del, NC_000006.12:g.34695071del, NC_000006.12:g.34695071dup, NC_000006.12:g.34695070_34695071dup, NC_000006.12:g.34695069_34695071dup, NC_000006.12:g.34695068_34695071dup, NC_000006.12:g.34695067_34695071dup, NC_000006.12:g.34695066_34695071dup, NC_000006.12:g.34695065_34695071dup, NC_000006.11:g.34662842_34662848del, NC_000006.11:g.34662843_34662848del, NC_000006.11:g.34662844_34662848del, NC_000006.11:g.34662845_34662848del, NC_000006.11:g.34662846_34662848del, NC_000006.11:g.34662847_34662848del, NC_000006.11:g.34662848del, NC_000006.11:g.34662848dup, NC_000006.11:g.34662847_34662848dup, NC_000006.11:g.34662846_34662848dup, NC_000006.11:g.34662845_34662848dup, NC_000006.11:g.34662844_34662848dup, NC_000006.11:g.34662843_34662848dup, NC_000006.11:g.34662842_34662848dup

Select item 14900686172.

rs1490068617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:34694271 (GRCh38)
6:34662048 (GRCh37)
Canonical SPDI:: NC_000006.12:34694270:A:G
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.34694271A>G, NC_000006.11:g.34662048A>G

Select item 14893585553.

rs1489358555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:34695568 (GRCh38)
6:34663345 (GRCh37)
Canonical SPDI:: NC_000006.12:34695567:G:A
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.34695568G>A, NC_000006.11:g.34663345G>A

Select item 14890992554.

rs1489099255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:34696969 (GRCh38)
6:34664746 (GRCh37)
Canonical SPDI:: NC_000006.12:34696968:C:G
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.34696969C>G, NC_000006.11:g.34664746C>G, NR_134626.1:n.25C>G

Select item 14881437905.

rs1488143790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:34696766 (GRCh38)
6:34664543 (GRCh37)
Canonical SPDI:: NC_000006.12:34696765:C:G
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.34696766C>G, NC_000006.11:g.34664543C>G, NM_022758.6:c.-163G>C, NM_022758.5:c.-163G>C, NM_022758.4:c.-163G>C, NM_024294.4:c.-163G>C, NM_024294.3:c.-163G>C, NM_024294.2:c.-163G>C, XR_926300.4:n.2G>C, XR_926300.2:n.32G>C, XR_926300.1:n.37G>C, XM_005249298.4:c.-163G>C, XM_005249298.2:c.-163G>C, XM_005249298.1:c.-163G>C, XR_007059332.1:n.2G>C, XR_007059333.1:n.2G>C

Select item 14881214216.

rs1488121421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:34697459 (GRCh38)
6:34665236 (GRCh37)
Canonical SPDI:: NC_000006.12:34697458:C:T
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.34697459C>T, NC_000006.11:g.34665236C>T, NR_134625.1:n.870C>T, NR_134626.1:n.354C>T

Select item 14880346567.

rs1488034656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:34696845 (GRCh38)
6:34664622 (GRCh37)
Canonical SPDI:: NC_000006.12:34696844:G:A,NC_000006.12:34696844:G:C
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00092/15 (ALFA)
A=0.00002/2 (GnomAD)
C=0.00551/92 (TOMMO)
C=0.00733/13 (Korea1K)
HGVS:: NC_000006.12:g.34696845G>A, NC_000006.12:g.34696845G>C, NC_000006.11:g.34664622G>A, NC_000006.11:g.34664622G>C, NM_022758.5:c.-242C>T, NM_022758.5:c.-242C>G, NM_022758.4:c.-242C>T, NM_022758.4:c.-242C>G, NM_024294.3:c.-242C>T, NM_024294.3:c.-242C>G, NM_024294.2:c.-242C>T, NM_024294.2:c.-242C>G

Select item 14871004568.

rs1487100456 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:34695197 (GRCh38)
6:34662974 (GRCh37)
Canonical SPDI:: NC_000006.12:34695196:T:C
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000042/11 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000006.12:g.34695197T>C, NC_000006.11:g.34662974T>C

Select item 14870760559.

rs1487076055 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148604131010.

rs1486041310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:34697104 (GRCh38)
6:34664881 (GRCh37)
Canonical SPDI:: NC_000006.12:34697103:G:C,NC_000006.12:34697103:G:T
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.34697104G>C, NC_000006.12:g.34697104G>T, NC_000006.11:g.34664881G>C, NC_000006.11:g.34664881G>T

Select item 148583540311.

rs1485835403 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:34696413 (GRCh38)
6:34664190 (GRCh37)
Canonical SPDI:: NC_000006.12:34696412:G:
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.34696413del, NC_000006.11:g.34664190del, NR_134625.1:n.260del

Select item 148570208512.

rs1485702085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:34695213 (GRCh38)
6:34662990 (GRCh37)
Canonical SPDI:: NC_000006.12:34695212:T:C
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.34695213T>C, NC_000006.11:g.34662990T>C

Select item 148556920713.

rs1485569207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:34696782 (GRCh38)
6:34664559 (GRCh37)
Canonical SPDI:: NC_000006.12:34696781:C:T
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.34696782C>T, NC_000006.11:g.34664559C>T, NM_022758.5:c.-179G>A, NM_022758.4:c.-179G>A, NM_024294.3:c.-179G>A, NM_024294.2:c.-179G>A

Select item 148484581514.

rs1484845815 has merged into rs1263927874 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC [Show Flanks]
Chromosome:: 6:34696797 (GRCh38)
6:34664574 (GRCh37)
Canonical SPDI:: NC_000006.12:34696796:CCCCCCCC:CCCCCCC,NC_000006.12:34696796:CCCCCCCC:CCCCCCCCC,NC_000006.12:34696796:CCCCCCCC:CCCCCCCCCC
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.00337/49 (TOMMO)
-=0.01323/20 (Korea1K)
HGVS:: NC_000006.12:g.34696804del, NC_000006.12:g.34696804dup, NC_000006.12:g.34696803_34696804dup, NC_000006.11:g.34664581del, NC_000006.11:g.34664581dup, NC_000006.11:g.34664580_34664581dup, NM_022758.5:c.-194del, NM_022758.5:c.-194dup, NM_022758.5:c.-195_-194dup, NM_022758.4:c.-194del, NM_022758.4:c.-194dup, NM_022758.4:c.-195_-194dup, NM_024294.3:c.-194del, NM_024294.3:c.-194dup, NM_024294.3:c.-195_-194dup, NM_024294.2:c.-194del, NM_024294.2:c.-194dup, NM_024294.2:c.-195_-194dup

Select item 148471336415.

rs1484713364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:34695695 (GRCh38)
6:34663472 (GRCh37)
Canonical SPDI:: NC_000006.12:34695694:C:G
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.34695695C>G, NC_000006.11:g.34663472C>G

Select item 148383094516.

rs1483830945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:34694175 (GRCh38)
6:34661952 (GRCh37)
Canonical SPDI:: NC_000006.12:34694174:A:G
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.34694175A>G, NC_000006.11:g.34661952A>G

Select item 148346290517.

rs1483462905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:34697044 (GRCh38)
6:34664821 (GRCh37)
Canonical SPDI:: NC_000006.12:34697043:C:T
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.34697044C>T, NC_000006.11:g.34664821C>T

Select item 148243003918.

rs1482430039 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATA>- [Show Flanks]
Chromosome:: 6:34694194 (GRCh38)
6:34661971 (GRCh37)
Canonical SPDI:: NC_000006.12:34694191:TAAATA:TA
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.34694194_34694197del, NC_000006.11:g.34661971_34661974del

Select item 147883910619.

rs1478839106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:34695324 (GRCh38)
6:34663101 (GRCh37)
Canonical SPDI:: NC_000006.12:34695323:T:C
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000006.12:g.34695324T>C, NC_000006.11:g.34663101T>C

Select item 147755143820.

rs1477551438 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:34696792 (GRCh38)
6:34664570 (GRCh37)
Canonical SPDI:: NC_000006.12:34696792:CCC:CCCC
Gene:: ILRUN (Varview), ILRUN-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0.00042/5 (ALFA)
C=0.00035/28 (GnomAD)
HGVS:: NC_000006.12:g.34696795dup, NC_000006.11:g.34664572dup, NM_022758.5:c.-190dup, NM_022758.4:c.-190dup, NM_024294.3:c.-190dup, NM_024294.2:c.-190dup

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