SNP Links for Gene (Select 100506755) - SNP

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Select item 14906029441.

rs1490602944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7016417 (GRCh38)
17:6919736 (GRCh37)
Canonical SPDI:: NC_000017.11:7016416:A:G
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: 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_000017.11:g.7016417A>G, NC_000017.10:g.6919736A>G

Select item 14901147542.

rs1490114754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7016898 (GRCh38)
17:6920217 (GRCh37)
Canonical SPDI:: NC_000017.11:7016897:C:T
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7016898C>T, NC_000017.10:g.6920217C>T

Select item 14897181833.

rs1489718183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7021604 (GRCh38)
17:6924923 (GRCh37)
Canonical SPDI:: NC_000017.11:7021603:C:T
Gene:: BCL6B (Varview), MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.7021604C>T, NC_000017.10:g.6924923C>T

Select item 14883355904.

rs1488335590 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:7015393 (GRCh38)
17:6918712 (GRCh37)
Canonical SPDI:: NC_000017.11:7015392:A:C
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.7015393A>C, NC_000017.10:g.6918712A>C

Select item 14874752485.

rs1487475248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7018157 (GRCh38)
17:6921476 (GRCh37)
Canonical SPDI:: NC_000017.11:7018156:G:A
Gene:: MIR195 (Varview), MIR497 (Varview), MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.7018157G>A, NC_000017.10:g.6921476G>A

Select item 14870461476.

rs1487046147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7017584 (GRCh38)
17:6920903 (GRCh37)
Canonical SPDI:: NC_000017.11:7017583:C:T
Gene:: C17orf49 (Varview), MIR195 (Varview), MIR497 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
HGVS:: NC_000017.11:g.7017584C>T, NC_000017.10:g.6920903C>T

Select item 14866160047.

rs1486616004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7019475 (GRCh38)
17:6922794 (GRCh37)
Canonical SPDI:: NC_000017.11:7019474:C:T
Gene:: MIR195 (Varview), MIR497 (Varview), MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.7019475C>T, NC_000017.10:g.6922794C>T, NR_038310.1:n.180G>A

Select item 14866027058.

rs1486602705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:7019192 (GRCh38)
17:6922511 (GRCh37)
Canonical SPDI:: NC_000017.11:7019191:C:A
Gene:: MIR195 (Varview), MIR497 (Varview), MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.7019192C>A, NC_000017.10:g.6922511C>A

Select item 14849062949.

rs1484906294 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7016250 (GRCh38)
17:6919569 (GRCh37)
Canonical SPDI:: NC_000017.11:7016249:A:G
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.7016250A>G, NC_000017.10:g.6919569A>G

Select item 148488796610.

rs1484887966 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7019091 (GRCh38)
17:6922410 (GRCh37)
Canonical SPDI:: NC_000017.11:7019090:C:T
Gene:: MIR195 (Varview), MIR497 (Varview), MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.7019091C>T, NC_000017.10:g.6922410C>T

Select item 148465052411.

rs1484650524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7020185 (GRCh38)
17:6923504 (GRCh37)
Canonical SPDI:: NC_000017.11:7020184:G:A
Gene:: MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000045/12 (TOPMED)
HGVS:: NC_000017.11:g.7020185G>A, NC_000017.10:g.6923504G>A

Select item 148464519712.

rs1484645197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7019950 (GRCh38)
17:6923269 (GRCh37)
Canonical SPDI:: NC_000017.11:7019949:C:T
Gene:: MIR497 (Varview), MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7019950C>T, NC_000017.10:g.6923269C>T

Select item 148408627113.

rs1484086271 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7020849 (GRCh38)
17:6924168 (GRCh37)
Canonical SPDI:: NC_000017.11:7020848:C:T
Gene:: MIR497HG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7020849C>T, NC_000017.10:g.6924168C>T

Select item 148355611714.

rs1483556117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7017685 (GRCh38)
17:6921004 (GRCh37)
Canonical SPDI:: NC_000017.11:7017684:C:T
Gene:: C17orf49 (Varview), MIR195 (Varview), MIR497 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
HGVS:: NC_000017.11:g.7017685C>T, NC_000017.10:g.6921004C>T, NR_029712.1:n.17G>A

Select item 148256024515.

rs1482560245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7015523 (GRCh38)
17:6918842 (GRCh37)
Canonical SPDI:: NC_000017.11:7015522:T:C
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7015523T>C, NC_000017.10:g.6918842T>C

Select item 148195794816.

rs1481957948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7015973 (GRCh38)
17:6919292 (GRCh37)
Canonical SPDI:: NC_000017.11:7015972:C:T
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
T=0.000531/9 (TOMMO)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.7015973C>T, NC_000017.10:g.6919292C>T, NR_038310.1:n.639G>A

Select item 148182652217.

rs1481826522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7016216 (GRCh38)
17:6919535 (GRCh37)
Canonical SPDI:: NC_000017.11:7016215:C:G,NC_000017.11:7016215:C:T
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7016216C>G, NC_000017.11:g.7016216C>T, NC_000017.10:g.6919535C>G, NC_000017.10:g.6919535C>T

Select item 148158973118.

rs1481589731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7016657 (GRCh38)
17:6919976 (GRCh37)
Canonical SPDI:: NC_000017.11:7016656:G:C
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.7016657G>C, NC_000017.10:g.6919976G>C, NM_174893.4:c.381G>C, NM_174893.3:c.381G>C, NM_001142798.3:c.381G>C, NM_001142798.2:c.381G>C, NM_001142799.3:c.279G>C, NM_001142799.2:c.279G>C, NR_037717.1:n.1512G>C

Select item 148091680319.

rs1480916803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7015505 (GRCh38)
17:6918824 (GRCh37)
Canonical SPDI:: NC_000017.11:7015504:T:C
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7015505T>C, NC_000017.10:g.6918824T>C

Select item 148088561820.

rs1480885618 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGCTGCCCCTCCTCC>- [Show Flanks]
Chromosome:: 17:7016615 (GRCh38)
17:6919934 (GRCh37)
Canonical SPDI:: NC_000017.11:7016606:CCTCCTCCAGCTGCCCCTCCTCC:CCTCCTCC
Gene:: C17orf49 (Varview), MIR497HG (Varview), RNASEK-C17orf49 (Varview)
Functional Consequence:: inframe_deletion,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CCTCCTCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7016615_7016629del, NC_000017.10:g.6919934_6919948del, NM_174893.4:c.339_353del, NM_174893.3:c.339_353del, NM_001142798.3:c.339_353del, NM_001142798.2:c.339_353del, NM_001142799.3:c.237_251del, NM_001142799.2:c.237_251del, NR_037717.1:n.1470_1484del, NP_777553.1:p.Ala114_Pro118del, NP_001136270.1:p.Ala114_Pro118del, NP_001136271.1:p.Ala80_Pro84del

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