SNP Links for Gene (Select 283045) - SNP

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Select item 14915350491.

rs1491535049 has merged into rs1491391919 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 10:62371147 (GRCh38)
10:64130906 (GRCh37)
Canonical SPDI:: NC_000010.11:62371142:ATATATAT:ATAT,NC_000010.11:62371142:ATATATAT:ATATAT,NC_000010.11:62371142:ATATATAT:ATATATATAT
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
AT=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.62371143AT[2], NC_000010.11:g.62371143AT[3], NC_000010.11:g.62371143AT[5], NC_000010.10:g.64130902AT[2], NC_000010.10:g.64130902AT[3], NC_000010.10:g.64130902AT[5], NG_021209.2:g.1952AT[2], NG_021209.2:g.1952AT[3], NG_021209.2:g.1952AT[5]

Select item 14915310242.

rs1491531024 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATTATATA [Show Flanks]
Chromosome:: 10:62370549 (GRCh38)
10:64130309 (GRCh37)
Canonical SPDI:: NC_000010.11:62370549:TATATA:TATATACATTATATA
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATACATTATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.62370550_62370555TA[3]CATTATATA[1], NC_000010.10:g.64130309_64130314TA[3]CATTATATA[1], NG_021209.2:g.1359_1364TA[3]CATTATATA[1]

Select item 14915244623.

rs1491524462 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 10:62373568 (GRCh38)
10:64133327 (GRCh37)
Canonical SPDI:: NC_000010.11:62373567:TA:
Gene:: ZNF365 (Varview), LOC283045 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.62373568_62373569del, NC_000010.10:g.64133327_64133328del, NG_021209.2:g.4377_4378del

Select item 14914513244.

rs1491451324 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTATATAT [Show Flanks]
Chromosome:: 10:62371096 (GRCh38)
10:64130856 (GRCh37)
Canonical SPDI:: NC_000010.11:62371096:TATATAT:TATATATCTATATAT
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATATCTATATAT=0./0 (ALFA)
TATATATC=0.00036/9 (GnomAD)
HGVS:: NC_000010.11:g.62371097_62371103TA[3]TCTATATAT[1], NC_000010.10:g.64130856_64130862TA[3]TCTATATAT[1], NG_021209.2:g.1906_1912TA[3]TCTATATAT[1]

Select item 14914412605.

rs1491441260 [Homo sapiens]

Variant type:: INS
Alleles:: ->CG [Show Flanks]
Chromosome:: 10:62371170 (GRCh38)
10:64130930 (GRCh37)
Canonical SPDI:: NC_000010.11:62371170::CG
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: CG=0.00053/13 (TOMMO)
CG=0.00231/2 (Korea1K)
CG=0.00246/20 (GnomAD)
HGVS:: NC_000010.11:g.62371170_62371171insCG, NC_000010.10:g.64130929_64130930insCG, NG_021209.2:g.1979_1980insCG

Select item 14914294166.

rs1491429416 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:62371327 (GRCh38)
10:64131086 (GRCh37)
Canonical SPDI:: NC_000010.11:62371326:GA:
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000010.11:g.62371327_62371328del, NC_000010.10:g.64131086_64131087del, NG_021209.2:g.2136_2137del

Select item 14914283887.

rs1491428388 has merged into rs200575569 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATAT>-,AT,ATAT,ATATATAT [Show Flanks]
Chromosome:: 10:62370179 (GRCh38)
10:64129938 (GRCh37)
Canonical SPDI:: NC_000010.11:62370170:ATATATATATATAT:ATATATAT,NC_000010.11:62370170:ATATATATATATAT:ATATATATAT,NC_000010.11:62370170:ATATATATATATAT:ATATATATATAT,NC_000010.11:62370170:ATATATATATATAT:ATATATATATATATAT
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATAT=0./0 (ALFA)
-=0.002/1 (TOMMO)
ATAT=0.301/1160 (ALSPAC)
HGVS:: NC_000010.11:g.62370171AT[4], NC_000010.11:g.62370171AT[5], NC_000010.11:g.62370171AT[6], NC_000010.11:g.62370171AT[8], NC_000010.10:g.64129930AT[4], NC_000010.10:g.64129930AT[5], NC_000010.10:g.64129930AT[6], NC_000010.10:g.64129930AT[8], NG_021209.2:g.980AT[4], NG_021209.2:g.980AT[5], NG_021209.2:g.980AT[6], NG_021209.2:g.980AT[8]

Select item 14914239578.

rs1491423957 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATATATAT>-,ATCATATATATATCATATATAT [Show Flanks]
Chromosome:: 10:62371084 (GRCh38)
10:64130843 (GRCh37)
Canonical SPDI:: NC_000010.11:62371077:ATATATATCATATATAT:ATATAT,NC_000010.11:62371077:ATATATATCATATATAT:ATATATATCATATATATATCATATATAT
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATCATATATATATCATATATAT=0.00008/1 (ALFA)
HGVS:: NC_000010.11:g.62371084_62371094del, NC_000010.11:g.62371084_62371094dup, NC_000010.10:g.64130843_64130853del, NC_000010.10:g.64130843_64130853dup, NG_021209.2:g.1893_1903del, NG_021209.2:g.1893_1903dup

Select item 14914074959.

rs1491407495 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:62371142 (GRCh38)
10:64130901 (GRCh37)
Canonical SPDI:: NC_000010.11:62371141:CA:
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00776/92 (ALFA)
-=0.00133/39 (GnomAD)
-=0.00513/12 (TOMMO)
HGVS:: NC_000010.11:g.62371142_62371143del, NC_000010.10:g.64130901_64130902del, NG_021209.2:g.1951_1952del

Select item 149140414610.

rs1491404146 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:62354318 (GRCh38)
10:64114078 (GRCh37)
Canonical SPDI:: NC_000010.11:62354318:C:CC
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000037/1 (GnomAD)
HGVS:: NC_000010.11:g.62354319dup, NC_000010.10:g.64114078dup

Select item 149139191911.

rs1491391919 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 10:62371147 (GRCh38)
10:64130906 (GRCh37)
Canonical SPDI:: NC_000010.11:62371142:ATATATAT:ATAT,NC_000010.11:62371142:ATATATAT:ATATAT,NC_000010.11:62371142:ATATATAT:ATATATATAT
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0./0 (ALFA)
AT=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.62371143AT[2], NC_000010.11:g.62371143AT[3], NC_000010.11:g.62371143AT[5], NC_000010.10:g.64130902AT[2], NC_000010.10:g.64130902AT[3], NC_000010.10:g.64130902AT[5], NG_021209.2:g.1952AT[2], NG_021209.2:g.1952AT[3], NG_021209.2:g.1952AT[5]

Select item 149137958612.

rs1491379586 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 10:62371132 (GRCh38)
10:64130891 (GRCh37)
Canonical SPDI:: NC_000010.11:62371131:TC:
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00008/2 (TOMMO)
HGVS:: NC_000010.11:g.62371132_62371133del, NC_000010.10:g.64130891_64130892del, NG_021209.2:g.1941_1942del

Select item 149137421513.

rs1491374215 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGATATAT [Show Flanks]
Chromosome:: 10:62371391 (GRCh38)
10:64131151 (GRCh37)
Canonical SPDI:: NC_000010.11:62371391::AGATATAT
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGATATAT=0.0002/1 (ALFA)
AGATATAT=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.62371391_62371392insAGATATAT, NC_000010.10:g.64131150_64131151insAGATATAT, NG_021209.2:g.2200_2201insAGATATAT

Select item 149137167614.

rs1491371676 [Homo sapiens]

Variant type:: SNV:
Alleles:: GC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149135294515.

rs1491352945 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:62371380 (GRCh38)
10:64131139 (GRCh37)
Canonical SPDI:: NC_000010.11:62371379:CA:
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000010.11:g.62371380_62371381del, NC_000010.10:g.64131139_64131140del, NG_021209.2:g.2189_2190del

Select item 149135090116.

rs1491350901 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATATATAAC,ATATATATC,ATATATATCA,ATATATCAC,ATATATCATATATATCATATATATCAC [Show Flanks]
Chromosome:: 10:62371251 (GRCh38)
10:64131011 (GRCh37)
Canonical SPDI:: NC_000010.11:62371251::ATATATAAC,NC_000010.11:62371251::ATATATATC,NC_000010.11:62371251::ATATATATCA,NC_000010.11:62371251::ATATATCAC,NC_000010.11:62371251::ATATATCATATATATCATATATATCAC
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATC=0./0 (ALFA)
HGVS:: NC_000010.11:g.62371251_62371252insATATATAAC, NC_000010.11:g.62371251_62371252insATATATATC, NC_000010.11:g.62371251_62371252insATATATATCA, NC_000010.11:g.62371251_62371252insATATATCAC, NC_000010.11:g.62371251_62371252insATATATCATATATATCATATATATCAC, NC_000010.10:g.64131010_64131011insATATATAAC, NC_000010.10:g.64131010_64131011insATATATATC, NC_000010.10:g.64131010_64131011insATATATATCA, NC_000010.10:g.64131010_64131011insATATATCAC, NC_000010.10:g.64131010_64131011insATATATCATATATATCATATATATCAC, NG_021209.2:g.2060_2061insATATATAAC, NG_021209.2:g.2060_2061insATATATATC, NG_021209.2:g.2060_2061insATATATATCA, NG_021209.2:g.2060_2061insATATATCAC, NG_021209.2:g.2060_2061insATATATCATATATATCATATATATCAC

Select item 149134270617.

rs1491342706 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:62371077 (GRCh38)
10:64130836 (GRCh37)
Canonical SPDI:: NC_000010.11:62371076:CA:
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.62371077_62371078del, NC_000010.10:g.64130836_64130837del, NG_021209.2:g.1886_1887del

Select item 149133205218.

rs1491332052 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:62370170 (GRCh38)
10:64129929 (GRCh37)
Canonical SPDI:: NC_000010.11:62370169:CA:
Gene:: LOC283045 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.62370170_62370171del, NC_000010.10:g.64129929_64129930del, NG_021209.2:g.979_980del