SNP Links for Gene (Select 692197) - SNP

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Items: 1 to 20 of 989

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Select item 14905546591.

rs1490554659 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:173867160 (GRCh38)
1:173836299 (GRCh37)
Canonical SPDI:: NC_000001.11:173867160:TT:TTT
Gene:: SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173867162dup, NC_000001.10:g.173836300dup

Select item 14901232462.

rs1490123246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:173866504 (GRCh38)
1:173835642 (GRCh37)
Canonical SPDI:: NC_000001.11:173866503:A:T
Gene:: SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.173866504A>T, NC_000001.10:g.173835642A>T

Select item 14897855973.

rs1489785597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173867137 (GRCh38)
1:173836275 (GRCh37)
Canonical SPDI:: NC_000001.11:173867136:A:G
Gene:: SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.173867137A>G, NC_000001.10:g.173836275A>G

Select item 14891626864.

rs1489162686 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:173868108 (GRCh38)
1:173837246 (GRCh37)
Canonical SPDI:: NC_000001.11:173868107:A:C
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.173868108A>C, NC_000001.10:g.173837246A>C, NM_001346115.2:c.-370A>C, NM_001346115.1:c.-370A>C, NM_001369846.1:c.-373A>C, NM_001395200.1:c.-373A>C

Select item 14891416205.

rs1489141620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173867896 (GRCh38)
1:173837034 (GRCh37)
Canonical SPDI:: NC_000001.11:173867895:T:C
Gene:: SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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_000001.11:g.173867896T>C, NC_000001.10:g.173837034T>C

Select item 14886721356.

rs1488672135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:173868305 (GRCh38)
1:173837443 (GRCh37)
Canonical SPDI:: NC_000001.11:173868304:T:A
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.173868305T>A, NC_000001.10:g.173837443T>A, NM_032522.4:c.-323T>A, NM_001122770.2:c.-323T>A

Select item 14870681587.

rs1487068158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173868098 (GRCh38)
1:173837236 (GRCh37)
Canonical SPDI:: NC_000001.11:173868097:C:T
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000312/2 (1000Genomes)
T=0.000685/2 (KOREAN)
HGVS:: NC_000001.11:g.173868098C>T, NC_000001.10:g.173837236C>T, NM_001346115.2:c.-380C>T, NM_001346115.1:c.-380C>T, NM_001369846.1:c.-383C>T, NM_001395200.1:c.-383C>T

Select item 14870369978.

rs1487036997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:173868063 (GRCh38)
1:173837201 (GRCh37)
Canonical SPDI:: NC_000001.11:173868062:C:G,NC_000001.11:173868062:C:T
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.173868063C>G, NC_000001.11:g.173868063C>T, NC_000001.10:g.173837201C>G, NC_000001.10:g.173837201C>T

Select item 14855344709.

rs1485534470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:173868059 (GRCh38)
1:173837197 (GRCh37)
Canonical SPDI:: NC_000001.11:173868058:C:G
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173868059C>G, NC_000001.10:g.173837197C>G

Select item 148546028010.

rs1485460280 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173867011 (GRCh38)
1:173836149 (GRCh37)
Canonical SPDI:: NC_000001.11:173867010:A:G
Gene:: SNORD79 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.173867011A>G, NC_000001.10:g.173836149A>G, NR_002578.3:n.65T>C, NR_002578.2:n.61T>C, NR_152521.1:n.191T>C, NR_152531.1:n.65T>C, NR_152532.1:n.65T>C, NR_152525.1:n.65T>C, NR_152533.1:n.65T>C, NR_152526.1:n.65T>C, NR_152524.1:n.65T>C, NR_152530.1:n.65T>C, NR_152523.1:n.65T>C, NR_152522.1:n.65T>C, NR_152534.1:n.65T>C, NR_152529.1:n.65T>C, NR_152528.1:n.65T>C, NR_152527.1:n.65T>C

Select item 148317776711.

rs1483177767 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>- [Show Flanks]
Chromosome:: 1:173866737 (GRCh38)
1:173835875 (GRCh37)
Canonical SPDI:: NC_000001.11:173866734:TTTTT:TT
Gene:: SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173866737_173866739del, NC_000001.10:g.173835875_173835877del

Select item 148117796212.

rs1481177962 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:173866048 (GRCh38)
1:173835186 (GRCh37)
Canonical SPDI:: NC_000001.11:173866047:T:C,NC_000001.11:173866047:T:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173866048T>C, NC_000001.11:g.173866048T>G, NC_000001.10:g.173835186T>C, NC_000001.10:g.173835186T>G

Select item 148069615113.

rs1480696151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:173866489 (GRCh38)
1:173835627 (GRCh37)
Canonical SPDI:: NC_000001.11:173866488:T:G
Gene:: SNORD79 (Varview), SNORD80 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_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_000001.11:g.173866489T>G, NC_000001.10:g.173835627T>G

Select item 148004634914.

rs1480046349 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:173865846 (GRCh38)
1:173834984 (GRCh37)
Canonical SPDI:: NC_000001.11:173865845:TT:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000142/2 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000068/18 (TOPMED)
HGVS:: NC_000001.11:g.173865847del, NC_000001.10:g.173834985del

Select item 147911072115.

rs1479110721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:173867636 (GRCh38)
1:173836774 (GRCh37)
Canonical SPDI:: NC_000001.11:173867635:G:C
Gene:: SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173867636G>C, NC_000001.10:g.173836774G>C

Select item 147909551016.

rs1479095510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:173868317 (GRCh38)
1:173837455 (GRCh37)
Canonical SPDI:: NC_000001.11:173868316:G:T
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.173868317G>T, NC_000001.10:g.173837455G>T, NM_032522.4:c.-311G>T, NM_001122770.2:c.-311G>T

Select item 147801037817.

rs1478010378 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:173867836 (GRCh38)
1:173836974 (GRCh37)
Canonical SPDI:: NC_000001.11:173867833:TCCTC:TC
Gene:: SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TC=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.173867836_173867838del, NC_000001.10:g.173836974_173836976del

Select item 147610733318.

rs1476107333 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:173866444 (GRCh38)
1:173835582 (GRCh37)
Canonical SPDI:: NC_000001.11:173866439:GAGAGA:GAGA
Gene:: SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), ZBTB37 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: GAGA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.173866440GA[2], NC_000001.10:g.173835578GA[2]

Select item 147584403519.

rs1475844035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173866068 (GRCh38)
1:173835206 (GRCh37)
Canonical SPDI:: NC_000001.11:173866067:G:A
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD77 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000001.11:g.173866068G>A, NC_000001.10:g.173835206G>A

Select item 147462567820.

rs1474625678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173868164 (GRCh38)
1:173837302 (GRCh37)
Canonical SPDI:: NC_000001.11:173868163:A:G
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview), SNORD77 (Varview), SNORA103 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.173868164A>G, NC_000001.10:g.173837302A>G, NM_001346115.2:c.-314A>G, NM_001346115.1:c.-314A>G, NM_001369846.1:c.-317A>G, NM_001395200.1:c.-317A>G

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