SNP Links for Gene (Select 105373986) - SNP

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Select item 14913883661.

rs1491388366 has merged into rs1227060225 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:110046036 (GRCh38)
2:110803613 (GRCh37)
Canonical SPDI:: NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:110046025:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00203/13 (1000Genomes)
HGVS:: NC_000002.12:g.110046036_110046048del, NC_000002.12:g.110046042_110046048del, NC_000002.12:g.110046043_110046048del, NC_000002.12:g.110046046_110046048del, NC_000002.12:g.110046047_110046048del, NC_000002.12:g.110046048del, NC_000002.12:g.110046048dup, NC_000002.12:g.110046047_110046048dup, NC_000002.12:g.110046046_110046048dup, NC_000002.12:g.110046045_110046048dup, NC_000002.11:g.110803613_110803625del, NC_000002.11:g.110803619_110803625del, NC_000002.11:g.110803620_110803625del, NC_000002.11:g.110803623_110803625del, NC_000002.11:g.110803624_110803625del, NC_000002.11:g.110803625del, NC_000002.11:g.110803625dup, NC_000002.11:g.110803624_110803625dup, NC_000002.11:g.110803623_110803625dup, NC_000002.11:g.110803622_110803625dup

Select item 14912694782.

rs1491269478 has merged into rs376608878 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATATA [Show Flanks]
Chromosome:: 2:110049396 (GRCh38)
2:110806973 (GRCh37)
Canonical SPDI:: NC_000002.12:110049391:TATATATA:TATA,NC_000002.12:110049391:TATATATA:TATATA,NC_000002.12:110049391:TATATATA:TATATATATA,NC_000002.12:110049391:TATATATA:TATATATATATA,NC_000002.12:110049391:TATATATA:TATATATATATATA,NC_000002.12:110049391:TATATATA:TATATATATATATATA,NC_000002.12:110049391:TATATATA:TATATATATATATATATA,NC_000002.12:110049391:TATATATA:TATATATATATATATATATA,NC_000002.12:110049391:TATATATA:TATATATATATATATATATATATA
Gene:: LOC105373986 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.110049392TA[2], NC_000002.12:g.110049392TA[3], NC_000002.12:g.110049392TA[5], NC_000002.12:g.110049392TA[6], NC_000002.12:g.110049392TA[7], NC_000002.12:g.110049392TA[8], NC_000002.12:g.110049392TA[9], NC_000002.12:g.110049392TA[10], NC_000002.12:g.110049392TA[12], NC_000002.11:g.110806969TA[2], NC_000002.11:g.110806969TA[3], NC_000002.11:g.110806969TA[5], NC_000002.11:g.110806969TA[6], NC_000002.11:g.110806969TA[7], NC_000002.11:g.110806969TA[8], NC_000002.11:g.110806969TA[9], NC_000002.11:g.110806969TA[10], NC_000002.11:g.110806969TA[12]

Select item 14912634573.

rs1491263457 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACATATA [Show Flanks]
Chromosome:: 2:110049392 (GRCh38)
2:110806970 (GRCh37)
Canonical SPDI:: NC_000002.12:110049392:ATATA:ATATACACATATA
Gene:: LOC105373986 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATATACACATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.110049393_110049397AT[2]AC[2]AT[2]A[1], NC_000002.11:g.110806970_110806974AT[2]AC[2]AT[2]A[1]

Select item 14911835934.

rs1491183593 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:110046025 (GRCh38)
2:110803602 (GRCh37)
Canonical SPDI:: NC_000002.12:110046024:CA:
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.110046025_110046026del, NC_000002.11:g.110803602_110803603del

Select item 14907042745.

rs1490704274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110046600 (GRCh38)
2:110804177 (GRCh37)
Canonical SPDI:: NC_000002.12:110046599:G:A
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_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_000002.12:g.110046600G>A, NC_000002.11:g.110804177G>A

Select item 14906292596.

rs1490629259 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:110049086 (GRCh38)
2:110806663 (GRCh37)
Canonical SPDI:: NC_000002.12:110049085:A:G
Gene:: LOC105373986 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000036/5 (GnomAD)
G=0.000468/3 (1000Genomes)
HGVS:: NC_000002.12:g.110049086A>G, NC_000002.11:g.110806663A>G

Select item 14905171597.

rs1490517159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:110046740 (GRCh38)
2:110804317 (GRCh37)
Canonical SPDI:: NC_000002.12:110046739:G:A,NC_000002.12:110046739:G:T
Gene:: LOC105373986 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00021/4 (TOMMO)
HGVS:: NC_000002.12:g.110046740G>A, NC_000002.12:g.110046740G>T, NC_000002.11:g.110804317G>A, NC_000002.11:g.110804317G>T, XR_001739118.2:n.734C>T, XR_001739118.2:n.734C>A, XR_001739118.1:n.832C>T, XR_001739118.1:n.832C>A

Select item 14900500198.

rs1490050019 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110042950 (GRCh38)
2:110800527 (GRCh37)
Canonical SPDI:: NC_000002.12:110042949:G:A
Gene:: LOC105373549 (Varview), LOC105373986 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0029/47 (ALFA)
A=0.00102/44 (GnomAD)
A=0.00172/11 (1000Genomes)
HGVS:: NC_000002.12:g.110042950G>A, NC_000002.11:g.110800527G>A, XR_001739118.2:n.1275C>T, XR_001739118.1:n.1373C>T

Select item 14900248639.

rs1490024863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110045076 (GRCh38)
2:110802653 (GRCh37)
Canonical SPDI:: NC_000002.12:110045075:G:A
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000165/19 (GnomAD)
HGVS:: NC_000002.12:g.110045076G>A, NC_000002.11:g.110802653G>A

Select item 148995930610.

rs1489959306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:110043407 (GRCh38)
2:110800984 (GRCh37)
Canonical SPDI:: NC_000002.12:110043406:G:A
Gene:: LOC105373549 (Varview), LOC105373986 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.110043407G>A, NC_000002.11:g.110800984G>A

Select item 148969290911.

rs1489692909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:110044173 (GRCh38)
2:110801750 (GRCh37)
Canonical SPDI:: NC_000002.12:110044172:T:C
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.110044173T>C, NC_000002.11:g.110801750T>C

Select item 148936605612.

rs1489366056 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:110048803 (GRCh38)
2:110806380 (GRCh37)
Canonical SPDI:: NC_000002.12:110048802:C:
Gene:: LOC105373986 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.110048803del, NC_000002.11:g.110806380del

Select item 148927162513.

rs1489271625 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:110043900 (GRCh38)
2:110801477 (GRCh37)
Canonical SPDI:: NC_000002.12:110043899:T:C
Gene:: LOC105373986 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.110043900T>C, NC_000002.11:g.110801477T>C, XR_001739118.2:n.986A>G, XR_001739118.1:n.1084A>G

Select item 148886386214.

rs1488863862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:110046118 (GRCh38)
2:110803695 (GRCh37)
Canonical SPDI:: NC_000002.12:110046117:A:G
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (GnomAD)
HGVS:: NC_000002.12:g.110046118A>G, NC_000002.11:g.110803695A>G

Select item 148881160615.

rs1488811606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110047087 (GRCh38)
2:110804664 (GRCh37)
Canonical SPDI:: NC_000002.12:110047086:C:T
Gene:: LOC105373986 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.110047087C>T, NC_000002.11:g.110804664C>T, XR_001739118.2:n.387G>A, XR_001739118.1:n.485G>A

Select item 148840187416.

rs1488401874 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:110046502 (GRCh38)
2:110804079 (GRCh37)
Canonical SPDI:: NC_000002.12:110046501:CC:C
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.110046503del, NC_000002.11:g.110804080del

Select item 148835043117.

rs1488350431 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:110048217 (GRCh38)
2:110805794 (GRCh37)
Canonical SPDI:: NC_000002.12:110048216:C:
Gene:: LOC105373986 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.110048217del, NC_000002.11:g.110805794del

Select item 148829478718.

rs1488294787 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:110043170 (GRCh38)
2:110800747 (GRCh37)
Canonical SPDI:: NC_000002.12:110043169:C:T
Gene:: LOC105373549 (Varview), LOC105373986 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.110043170C>T, NC_000002.11:g.110800747C>T, XR_001739118.2:n.1055G>A, XR_001739118.1:n.1153G>A

Select item 148817333019.

rs1488173330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:110049850 (GRCh38)
2:110807427 (GRCh37)
Canonical SPDI:: NC_000002.12:110049849:G:A,NC_000002.12:110049849:G:C
Gene:: LOC105373986 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.110049850G>A, NC_000002.12:g.110049850G>C, NC_000002.11:g.110807427G>A, NC_000002.11:g.110807427G>C

Select item 148801424420.

rs1488014244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:110046996 (GRCh38)
2:110804573 (GRCh37)
Canonical SPDI:: NC_000002.12:110046995:C:G
Gene:: LOC105373986 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.110046996C>G, NC_000002.11:g.110804573C>G, XR_001739118.2:n.478G>C, XR_001739118.1:n.576G>C

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