SNP Links for Gene (Select 60674) - SNP

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Select item 14910854711.

rs1491085471 has merged into rs528813679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:173865207 (GRCh38)
1:173834345 (GRCh37)
Canonical SPDI:: NC_000001.11:173865194:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:173865194:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:173865194:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:173865194:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:173865194:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:173865194:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:173865194:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.20819/122 (NorthernSweden)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000001.11:g.173865207_173865210del, NC_000001.11:g.173865208_173865210del, NC_000001.11:g.173865209_173865210del, NC_000001.11:g.173865210del, NC_000001.11:g.173865210dup, NC_000001.11:g.173865209_173865210dup, NC_000001.11:g.173865208_173865210dup, NC_000001.10:g.173834345_173834348del, NC_000001.10:g.173834346_173834348del, NC_000001.10:g.173834347_173834348del, NC_000001.10:g.173834348del, NC_000001.10:g.173834348dup, NC_000001.10:g.173834347_173834348dup, NC_000001.10:g.173834346_173834348dup

Select item 14905546592.

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 14901387283.

rs1490138728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173865762 (GRCh38)
1:173834900 (GRCh37)
Canonical SPDI:: NC_000001.11:173865761:A:G
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), SNORD44 (Varview), GAS5 (Varview), SNORD78 (Varview), SNORA103 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.173865762A>G, NC_000001.10:g.173834900A>G

Select item 14901232464.

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 14897855975.

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 14895131166.

rs1489513116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:173868465 (GRCh38)
1:173837603 (GRCh37)
Canonical SPDI:: NC_000001.11:173868464:G:A
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173868465G>A, NC_000001.10:g.173837603G>A, NG_082246.1:g.107G>A

Select item 14891626867.

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 14891416208.

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 14891030189.

rs1489103018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:173868659 (GRCh38)
1:173837797 (GRCh37)
Canonical SPDI:: NC_000001.11:173868658:G:T
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview), SNORD76 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.173868659G>T, NC_000001.10:g.173837797G>T, NG_082246.1:g.301G>T

Select item 148867213510.

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 148783623911.

rs1487836239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:173864160 (GRCh38)
1:173833298 (GRCh37)
Canonical SPDI:: NC_000001.11:173864159:T:C
Gene:: SNORD81 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_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_000001.11:g.173864160T>C, NC_000001.10:g.173833298T>C, NR_003938.2:n.63A>G

Select item 148741921612.

rs1487419216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:173865196 (GRCh38)
1:173834334 (GRCh37)
Canonical SPDI:: NC_000001.11:173865195:A:C,NC_000001.11:173865195:A:T
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.173865196A>C, NC_000001.11:g.173865196A>T, NC_000001.10:g.173834334A>C, NC_000001.10:g.173834334A>T

Select item 148706815813.

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 148703699714.

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 148677163615.

rs1486771636 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:173865317 (GRCh38)
1:173834456 (GRCh37)
Canonical SPDI:: NC_000001.11:173865317:AA:AAA
Gene:: SNORD81 (Varview), SNORD79 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), SNORD78 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000017/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173865319dup, NC_000001.10:g.173834457dup

Select item 148670376116.

rs1486703761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:173868840 (GRCh38)
1:173837978 (GRCh37)
Canonical SPDI:: NC_000001.11:173868839:C:T
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview), SNORD75 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.173868840C>T, NC_000001.10:g.173837978C>T, NG_082246.1:g.482C>T, NR_152521.1:n.43G>A

Select item 148659482317.

rs1486594823 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:173864363 (GRCh38)
1:173833502 (GRCh37)
Canonical SPDI:: NC_000001.11:173864363:A:AA
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.173864364dup, NC_000001.10:g.173833502dup

Select item 148646988718.

rs1486469887 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:173864406 (GRCh38)
1:173833544 (GRCh37)
Canonical SPDI:: NC_000001.11:173864405:T:A
Gene:: SNORD81 (Varview), SNORD80 (Varview), SNORD47 (Varview), GAS5 (Varview), GAS5-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.173864406T>A, NC_000001.10:g.173833544T>A, NR_002746.1:n.40A>T

Select item 148572240119.

rs1485722401 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:173869256 (GRCh38)
1:173838394 (GRCh37)
Canonical SPDI:: NC_000001.11:173869255:A:G
Gene:: GAS5 (Varview), ZBTB37 (Varview), SNORD74 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.173869256A>G, NC_000001.10:g.173838394A>G, NG_082246.1:g.898A>G

Select item 148553447020.

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

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