SNP Links for Gene (Select 101927861) - SNP

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Select item 14911817531.

rs1491181753 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 2:74939999 (GRCh38)
2:75167126 (GRCh37)
Canonical SPDI:: NC_000002.12:74939997:CGC:C
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000337/4 (ALFA)
-=0.000047/6 (GnomAD)
HGVS:: NC_000002.12:g.74939999_74940000del, NC_000002.11:g.75167126_75167127del

Select item 14911365502.

rs1491136550 has merged into rs35575180 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:74939368 (GRCh38)
2:75166495 (GRCh37)
Canonical SPDI:: NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.15/6 (GENOME_DK)
AA=0.4671/1732 (TWINSUK)
AA=0.4738/1826 (ALSPAC)
HGVS:: NC_000002.12:g.74939368_74939374del, NC_000002.12:g.74939369_74939374del, NC_000002.12:g.74939370_74939374del, NC_000002.12:g.74939371_74939374del, NC_000002.12:g.74939372_74939374del, NC_000002.12:g.74939373_74939374del, NC_000002.12:g.74939374del, NC_000002.12:g.74939374dup, NC_000002.12:g.74939373_74939374dup, NC_000002.12:g.74939372_74939374dup, NC_000002.12:g.74939371_74939374dup, NC_000002.12:g.74939370_74939374dup, NC_000002.12:g.74939368_74939374dup, NC_000002.12:g.74939366_74939374dup, NC_000002.11:g.75166495_75166501del, NC_000002.11:g.75166496_75166501del, NC_000002.11:g.75166497_75166501del, NC_000002.11:g.75166498_75166501del, NC_000002.11:g.75166499_75166501del, NC_000002.11:g.75166500_75166501del, NC_000002.11:g.75166501del, NC_000002.11:g.75166501dup, NC_000002.11:g.75166500_75166501dup, NC_000002.11:g.75166499_75166501dup, NC_000002.11:g.75166498_75166501dup, NC_000002.11:g.75166497_75166501dup, NC_000002.11:g.75166495_75166501dup, NC_000002.11:g.75166493_75166501dup

Select item 14896795133.

rs1489679513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:74939551 (GRCh38)
2:75166678 (GRCh37)
Canonical SPDI:: NC_000002.12:74939550:T:C
Gene:: LOC105374809 (Varview)
Functional Consequence:: 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_000002.12:g.74939551T>C, NC_000002.11:g.75166678T>C

Select item 14889037354.

rs1488903735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74943145 (GRCh38)
2:75170272 (GRCh37)
Canonical SPDI:: NC_000002.12:74943144:G:A,NC_000002.12:74943144:G:T
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.74943145G>A, NC_000002.12:g.74943145G>T, NC_000002.11:g.75170272G>A, NC_000002.11:g.75170272G>T

Select item 14887928015.

rs1488792801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74938241 (GRCh38)
2:75165368 (GRCh37)
Canonical SPDI:: NC_000002.12:74938240:G:A
Gene:: LINC01291 (Varview), LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000002.12:g.74938241G>A, NC_000002.11:g.75165368G>A

Select item 14886672946.

rs1488667294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74941486 (GRCh38)
2:75168613 (GRCh37)
Canonical SPDI:: NC_000002.12:74941485:C:T
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74941486C>T, NC_000002.11:g.75168613C>T

Select item 14883166547.

rs1488316654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74940933 (GRCh38)
2:75168060 (GRCh37)
Canonical SPDI:: NC_000002.12:74940932:G:A
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0./0 (GnomAD)
HGVS:: NC_000002.12:g.74940933G>A, NC_000002.11:g.75168060G>A

Select item 14875019468.

rs1487501946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74941400 (GRCh38)
2:75168527 (GRCh37)
Canonical SPDI:: NC_000002.12:74941399:G:A
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.74941400G>A, NC_000002.11:g.75168527G>A

Select item 14869841059.

rs1486984105 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 2:74939519 (GRCh38)
2:75166646 (GRCh37)
Canonical SPDI:: NC_000002.12:74939518:T:
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.74939519del, NC_000002.11:g.75166646del

Select item 148670846510.

rs1486708465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74940625 (GRCh38)
2:75167752 (GRCh37)
Canonical SPDI:: NC_000002.12:74940624:T:A
Gene:: LOC105374809 (Varview)
Functional Consequence:: 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_000002.12:g.74940625T>A, NC_000002.11:g.75167752T>A

Select item 148662632211.

rs1486626322 has merged into rs34225349 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 2:74940014 (GRCh38)
2:75167141 (GRCh37)
Canonical SPDI:: NC_000002.12:74940002:ACACACACACACACACACA:ACACACACACA,NC_000002.12:74940002:ACACACACACACACACACA:ACACACACACACA,NC_000002.12:74940002:ACACACACACACACACACA:ACACACACACACACA,NC_000002.12:74940002:ACACACACACACACACACA:ACACACACACACACACA,NC_000002.12:74940002:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000002.12:74940002:ACACACACACACACACACA:ACACACACACACACACACACACA
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACA=0./0 (ALFA)
-=0.222506/58895 (TOPMED)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000002.12:g.74940004CA[5], NC_000002.12:g.74940004CA[6], NC_000002.12:g.74940004CA[7], NC_000002.12:g.74940004CA[8], NC_000002.12:g.74940004CA[10], NC_000002.12:g.74940004CA[11], NC_000002.11:g.75167131CA[5], NC_000002.11:g.75167131CA[6], NC_000002.11:g.75167131CA[7], NC_000002.11:g.75167131CA[8], NC_000002.11:g.75167131CA[10], NC_000002.11:g.75167131CA[11]

Select item 148635343712.

rs1486353437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74938913 (GRCh38)
2:75166040 (GRCh37)
Canonical SPDI:: NC_000002.12:74938912:G:A
Gene:: LINC01291 (Varview), LOC105374809 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74938913G>A, NC_000002.11:g.75166040G>A

Select item 148604803013.

rs1486048030 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAATATGATCTCTACTAATGA>- [Show Flanks]
Chromosome:: 2:74939868 (GRCh38)
2:75166995 (GRCh37)
Canonical SPDI:: NC_000002.12:74939865:GACAAATATGATCTCTACTAATGA:GA
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.74939868_74939889del, NC_000002.11:g.75166995_75167016del

Select item 148561627814.

rs1485616278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74940139 (GRCh38)
2:75167266 (GRCh37)
Canonical SPDI:: NC_000002.12:74940138:G:A
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.74940139G>A, NC_000002.11:g.75167266G>A

Select item 148530618515.

rs1485306185 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:74941988 (GRCh38)
2:75169115 (GRCh37)
Canonical SPDI:: NC_000002.12:74941987:C:A
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.00005/7 (GnomAD)
HGVS:: NC_000002.12:g.74941988C>A, NC_000002.11:g.75169115C>A

Select item 148506432616.

rs1485064326 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:74939395 (GRCh38)
2:75166522 (GRCh37)
Canonical SPDI:: NC_000002.12:74939394:G:A,NC_000002.12:74939394:G:C
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74939395G>A, NC_000002.12:g.74939395G>C, NC_000002.11:g.75166522G>A, NC_000002.11:g.75166522G>C

Select item 148466738917.

rs1484667389 has merged into rs35575180 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:74939368 (GRCh38)
2:75166495 (GRCh37)
Canonical SPDI:: NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:74939354:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.15/6 (GENOME_DK)
AA=0.4671/1732 (TWINSUK)
AA=0.4738/1826 (ALSPAC)
HGVS:: NC_000002.12:g.74939368_74939374del, NC_000002.12:g.74939369_74939374del, NC_000002.12:g.74939370_74939374del, NC_000002.12:g.74939371_74939374del, NC_000002.12:g.74939372_74939374del, NC_000002.12:g.74939373_74939374del, NC_000002.12:g.74939374del, NC_000002.12:g.74939374dup, NC_000002.12:g.74939373_74939374dup, NC_000002.12:g.74939372_74939374dup, NC_000002.12:g.74939371_74939374dup, NC_000002.12:g.74939370_74939374dup, NC_000002.12:g.74939368_74939374dup, NC_000002.12:g.74939366_74939374dup, NC_000002.11:g.75166495_75166501del, NC_000002.11:g.75166496_75166501del, NC_000002.11:g.75166497_75166501del, NC_000002.11:g.75166498_75166501del, NC_000002.11:g.75166499_75166501del, NC_000002.11:g.75166500_75166501del, NC_000002.11:g.75166501del, NC_000002.11:g.75166501dup, NC_000002.11:g.75166500_75166501dup, NC_000002.11:g.75166499_75166501dup, NC_000002.11:g.75166498_75166501dup, NC_000002.11:g.75166497_75166501dup, NC_000002.11:g.75166495_75166501dup, NC_000002.11:g.75166493_75166501dup

Select item 148463265418.

rs1484632654 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:74939887 (GRCh38)
2:75167014 (GRCh37)
Canonical SPDI:: NC_000002.12:74939886:T:G
Gene:: LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74939887T>G, NC_000002.11:g.75167014T>G

Select item 148314879419.

rs1483148794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74937649 (GRCh38)
2:75164776 (GRCh37)
Canonical SPDI:: NC_000002.12:74937648:G:A
Gene:: LINC01291 (Varview), LOC105374809 (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_000002.12:g.74937649G>A, NC_000002.11:g.75164776G>A

Select item 148275158320.

rs1482751583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:74937549 (GRCh38)
2:75164676 (GRCh37)
Canonical SPDI:: NC_000002.12:74937548:G:C
Gene:: LINC01291 (Varview), LOC105374809 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74937549G>C, NC_000002.11:g.75164676G>C

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