SNP Links for Gene (Select 105371530) - SNP

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Select item 14913971791.

rs1491397179 has merged into rs11290199 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 17:8768546 (GRCh38)
17:8671864 (GRCh37)
Canonical SPDI:: NC_000017.11:8768537:CCCCCCCCCC:CCCCCCCC,NC_000017.11:8768537:CCCCCCCCCC:CCCCCCCCC,NC_000017.11:8768537:CCCCCCCCCC:CCCCCCCCCCC,NC_000017.11:8768537:CCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:8768537:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:8768537:CCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0.0003/2 (ALFA)
-=0.1897/950 (1000Genomes)
HGVS:: NC_000017.11:g.8768546_8768547del, NC_000017.11:g.8768547del, NC_000017.11:g.8768547dup, NC_000017.11:g.8768546_8768547dup, NC_000017.11:g.8768545_8768547dup, NC_000017.11:g.8768544_8768547dup, NC_000017.10:g.8671864_8671865del, NC_000017.10:g.8671865del, NC_000017.10:g.8671865dup, NC_000017.10:g.8671864_8671865dup, NC_000017.10:g.8671863_8671865dup, NC_000017.10:g.8671862_8671865dup, XR_007065608.1:n.385_386del, XR_007065608.1:n.386del, XR_007065608.1:n.386dup, XR_007065608.1:n.385_386dup, XR_007065608.1:n.384_386dup, XR_007065608.1:n.383_386dup

Select item 14909366762.

rs1490936676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8767772 (GRCh38)
17:8671090 (GRCh37)
Canonical SPDI:: NC_000017.11:8767771:G:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8767772G>A, NC_000017.10:g.8671090G>A

Select item 14876317893.

rs1487631789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8768619 (GRCh38)
17:8671937 (GRCh37)
Canonical SPDI:: NC_000017.11:8768618:G:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000017.11:g.8768619G>A, NC_000017.10:g.8671937G>A, XR_007065608.1:n.458G>A

Select item 14832958254.

rs1483295825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:8768134 (GRCh38)
17:8671452 (GRCh37)
Canonical SPDI:: NC_000017.11:8768133:T:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8768134T>A, NC_000017.10:g.8671452T>A

Select item 14831341735.

rs1483134173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:8768595 (GRCh38)
17:8671913 (GRCh37)
Canonical SPDI:: NC_000017.11:8768594:C:G,NC_000017.11:8768594:C:T
Gene:: LOC105371530 (Varview), LOC124903918 (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=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8768595C>G, NC_000017.11:g.8768595C>T, NC_000017.10:g.8671913C>G, NC_000017.10:g.8671913C>T, XR_007065608.1:n.434C>G, XR_007065608.1:n.434C>T

Select item 14826388466.

rs1482638846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8767284 (GRCh38)
17:8670602 (GRCh37)
Canonical SPDI:: NC_000017.11:8767283:T:C
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.8767284T>C, NC_000017.10:g.8670602T>C

Select item 14825864837.

rs1482586483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:8768281 (GRCh38)
17:8671599 (GRCh37)
Canonical SPDI:: NC_000017.11:8768280:T:G
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.8768281T>G, NC_000017.10:g.8671599T>G, XR_007065608.1:n.120T>G

Select item 14817247258.

rs1481724725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8766880 (GRCh38)
17:8670198 (GRCh37)
Canonical SPDI:: NC_000017.11:8766879:G:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.8766880G>A, NC_000017.10:g.8670198G>A

Select item 14816826319.

rs1481682631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8765925 (GRCh38)
17:8669243 (GRCh37)
Canonical SPDI:: NC_000017.11:8765924:A:G
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8765925A>G, NC_000017.10:g.8669243A>G, XR_934221.3:n.523T>C, XR_934221.2:n.523T>C, XR_934221.1:n.523T>C

Select item 148073038810.

rs1480730388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:8770092 (GRCh38)
17:8673410 (GRCh37)
Canonical SPDI:: NC_000017.11:8770091:T:G
Gene:: LOC105371530 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.8770092T>G, NC_000017.10:g.8673410T>G

Select item 148007691711.

rs1480076917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8769146 (GRCh38)
17:8672464 (GRCh37)
Canonical SPDI:: NC_000017.11:8769145:G:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.8769146G>A, NC_000017.10:g.8672464G>A

Select item 148004848612.

rs1480048486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8766898 (GRCh38)
17:8670216 (GRCh37)
Canonical SPDI:: NC_000017.11:8766897:G:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.8766898G>A, NC_000017.10:g.8670216G>A

Select item 147943589513.

rs1479435895 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8766293 (GRCh38)
17:8669611 (GRCh37)
Canonical SPDI:: NC_000017.11:8766292:A:G
Gene:: LOC105371530 (Varview), LOC124903918 (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_000017.11:g.8766293A>G, NC_000017.10:g.8669611A>G

Select item 147919830814.

rs1479198308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:8768805 (GRCh38)
17:8672123 (GRCh37)
Canonical SPDI:: NC_000017.11:8768804:G:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,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_000017.11:g.8768805G>A, NC_000017.10:g.8672123G>A, XR_007065608.1:n.644G>A

Select item 147859393215.

rs1478593932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:8769243 (GRCh38)
17:8672561 (GRCh37)
Canonical SPDI:: NC_000017.11:8769242:A:C
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.8769243A>C, NC_000017.10:g.8672561A>C

Select item 147661886416.

rs1476618864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:8767364 (GRCh38)
17:8670682 (GRCh37)
Canonical SPDI:: NC_000017.11:8767363:C:A
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.8767364C>A, NC_000017.10:g.8670682C>A

Select item 147598440517.

rs1475984405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8766923 (GRCh38)
17:8670241 (GRCh37)
Canonical SPDI:: NC_000017.11:8766922:A:G
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.8766923A>G, NC_000017.10:g.8670241A>G

Select item 147593144818.

rs1475931448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:8767993 (GRCh38)
17:8671311 (GRCh37)
Canonical SPDI:: NC_000017.11:8767992:T:C
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.8767993T>C, NC_000017.10:g.8671311T>C

Select item 147510678619.

rs1475106786 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTCGTGTGTTCAATTTCCTT>- [Show Flanks]
Chromosome:: 17:8768933 (GRCh38)
17:8672251 (GRCh37)
Canonical SPDI:: NC_000017.11:8768927:TCCTTTTTTCGTGTGTTCAATTTCCTT:TCCTT
Gene:: LOC105371530 (Varview), LOC124903918 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.8768933_8768954del, NC_000017.10:g.8672251_8672272del

Select item 147436375320.

rs1474363753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:8769925 (GRCh38)
17:8673243 (GRCh37)
Canonical SPDI:: NC_000017.11:8769924:A:G
Gene:: LOC105371530 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.8769925A>G, NC_000017.10:g.8673243A>G

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