SNP Links for Gene (Select 26820) - SNP

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Select item 14905585341.

rs1490558534 [Homo sapiens]

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

Select item 14895602972.

rs1489560297 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 9:133347883 (GRCh38)
9:136214738 (GRCh37)
Canonical SPDI:: NC_000009.12:133347882:A:
Gene:: RPL7A (Varview), MED22 (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.00036/10 (TOMMO)
HGVS:: NC_000009.12:g.133347883del, NW_009646201.1:g.173977del, NW_003315925.1:g.173977del, NC_000009.11:g.136214738del

Select item 14892695353.

rs1489269535 [Homo sapiens]

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

Select item 14889935474.

rs1488993547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133348326 (GRCh38)
9:136215181 (GRCh37)
Canonical SPDI:: NC_000009.12:133348325:G:A
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36B (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133348326G>A, NG_063148.1:g.413G>A, NW_009646201.1:g.174420G>A, NW_003315925.1:g.174420G>A, NC_000009.11:g.136215181G>A

Select item 14884753255.

rs1488475325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:133347624 (GRCh38)
9:136214479 (GRCh37)
Canonical SPDI:: NC_000009.12:133347623:T:G
Gene:: RPL7A (Varview), MED22 (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.133347624T>G, NW_009646201.1:g.173718T>G, NW_003315925.1:g.173718T>G, NC_000009.11:g.136214479T>G

Select item 14883779106.

rs1488377910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:133348236 (GRCh38)
9:136215091 (GRCh37)
Canonical SPDI:: NC_000009.12:133348235:C:A,NC_000009.12:133348235:C:T
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36B (Varview), SNORD24 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133348236C>A, NC_000009.12:g.133348236C>T, NG_063148.1:g.323C>A, NG_063148.1:g.323C>T, NW_009646201.1:g.174330C>A, NW_009646201.1:g.174330C>T, NW_003315925.1:g.174330C>A, NW_003315925.1:g.174330C>T, NC_000009.11:g.136215091C>A, NC_000009.11:g.136215091C>T, NM_000972.3:c.-8C>A, NM_000972.3:c.-8C>T, NM_000972.2:c.-8C>A, NM_000972.2:c.-8C>T

Select item 14873594207.

rs1487359420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133347770 (GRCh38)
9:136214625 (GRCh37)
Canonical SPDI:: NC_000009.12:133347769:C:T
Gene:: RPL7A (Varview), MED22 (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.133347770C>T, NW_009646201.1:g.173864C>T, NW_003315925.1:g.173864C>T, NC_000009.11:g.136214625C>T

Select item 14850671758.

rs1485067175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133348802 (GRCh38)
9:136215657 (GRCh37)
Canonical SPDI:: NC_000009.12:133348801:C:T
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.133348802C>T, NW_009646201.1:g.174896C>T, NW_003315925.1:g.174896C>T, NC_000009.11:g.136215657C>T

Select item 14849951179.

rs1484995117 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTGCTT>- [Show Flanks]
Chromosome:: 9:133349196 (GRCh38)
9:136216051 (GRCh37)
Canonical SPDI:: NC_000009.12:133349190:TGCTTCTTGCTT:TGCTT
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36C (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGCTT=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000042/11 (TOPMED)
HGVS:: NC_000009.12:g.133349196_133349202del, NW_009646201.1:g.175290_175296del, NW_003315925.1:g.175290_175296del, NC_000009.11:g.136216051_136216057del

Select item 148339090510.

rs1483390905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133349847 (GRCh38)
9:136216702 (GRCh37)
Canonical SPDI:: NC_000009.12:133349846:T:C
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36C (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.133349847T>C, NG_008477.2:g.11640A>G, NG_008477.1:g.11660A>G, NW_009646201.1:g.175941T>C, NW_003315925.1:g.175941T>C, NC_000009.11:g.136216702T>C

Select item 148275785911.

rs1482757859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133347694 (GRCh38)
9:136214549 (GRCh37)
Canonical SPDI:: NC_000009.12:133347693:C:T
Gene:: RPL7A (Varview), MED22 (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.133347694C>T, NW_009646201.1:g.173788C>T, NW_003315925.1:g.173788C>T, NC_000009.11:g.136214549C>T

Select item 148234380512.

rs1482343805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:133348852 (GRCh38)
9:136215707 (GRCh37)
Canonical SPDI:: NC_000009.12:133348851:C:G
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36C (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133348852C>G, NW_009646201.1:g.174946C>G, NW_003315925.1:g.174946C>G, NC_000009.11:g.136215707C>G

Select item 148084463913.

rs1480844639 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:133349487 (GRCh38)
9:136216343 (GRCh37)
Canonical SPDI:: NC_000009.12:133349487:GG:GGG
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36C (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133349489dup, NW_009646201.1:g.175583dup, NW_003315925.1:g.175583dup, NC_000009.11:g.136216344dup

Select item 148012954314.

rs1480129543 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133349180 (GRCh38)
9:136216035 (GRCh37)
Canonical SPDI:: NC_000009.12:133349179:G:A
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36C (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.133349180G>A, NW_009646201.1:g.175274G>A, NW_003315925.1:g.175274G>A, NC_000009.11:g.136216035G>A

Select item 147994121215.

rs1479941212 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:133348855 (GRCh38)
9:136215710 (GRCh37)
Canonical SPDI:: NC_000009.12:133348854:G:C
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36C (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000009.12:g.133348855G>C, NW_009646201.1:g.174949G>C, NW_003315925.1:g.174949G>C, NC_000009.11:g.136215710G>C

Select item 147921103116.

rs1479211031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:133349900 (GRCh38)
9:136216755 (GRCh37)
Canonical SPDI:: NC_000009.12:133349899:G:T
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36C (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133349900G>T, NG_008477.2:g.11587C>A, NG_008477.1:g.11607C>A, NW_009646201.1:g.175994G>T, NW_003315925.1:g.175994G>T, NC_000009.11:g.136216755G>T

Select item 147770639317.

rs1477706393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:133347989 (GRCh38)
9:136214844 (GRCh37)
Canonical SPDI:: NC_000009.12:133347988:C:A
Gene:: RPL7A (Varview), MED22 (Varview), SNORD24 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.133347989C>A, NG_063148.1:g.76C>A, NW_009646201.1:g.174083C>A, NW_003315925.1:g.174083C>A, NC_000009.11:g.136214844C>A, NM_133640.5:c.-106G>T, NM_133640.4:c.-106G>T, NM_006752.4:c.-106G>T, NM_181491.3:c.-106G>T, NM_181491.2:c.-106G>T, NM_006752.3:c.-106G>T, NM_006752.2:c.-106G>T, NM_006752.1:c.-106G>T

Select item 147725065818.

rs1477250658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:133348473 (GRCh38)
9:136215328 (GRCh37)
Canonical SPDI:: NC_000009.12:133348472:C:T
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36B (Varview), SNORD36A (Varview), SNORD24 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
HGVS:: NC_000009.12:g.133348473C>T, NW_009646201.1:g.174567C>T, NW_003315925.1:g.174567C>T, NC_000009.11:g.136215328C>T

Select item 147703248719.

rs1477032487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133348216 (GRCh38)
9:136215071 (GRCh37)
Canonical SPDI:: NC_000009.12:133348215:T:C
Gene:: RPL7A (Varview), MED22 (Varview), SNORD36B (Varview), SNORD24 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.133348216T>C, NG_063148.1:g.303T>C, NW_009646201.1:g.174310T>C, NW_003315925.1:g.174310T>C, NC_000009.11:g.136215071T>C, NM_000972.2:c.-28T>C

Select item 147694351220.

rs1476943512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133347659 (GRCh38)
9:136214514 (GRCh37)
Canonical SPDI:: NC_000009.12:133347658:G:A
Gene:: RPL7A (Varview), MED22 (Varview), SNORD24 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.133347659G>A, NW_009646201.1:g.173753G>A, NW_003315925.1:g.173753G>A, NC_000009.11:g.136214514G>A