SNP Links for Gene (Select 4947) - SNP

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Select item 14915442231.

rs1491544223 has merged into rs1175205933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:64701118 (GRCh38)
15:64993317 (GRCh37)
Canonical SPDI:: NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64701103:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64701118_64701124del, NC_000015.10:g.64701119_64701124del, NC_000015.10:g.64701123_64701124del, NC_000015.10:g.64701124del, NC_000015.10:g.64701124dup, NC_000015.10:g.64701123_64701124dup, NC_000015.10:g.64701122_64701124dup, NC_000015.10:g.64701121_64701124dup, NC_000015.10:g.64701120_64701124dup, NC_000015.9:g.64993317_64993323del, NC_000015.9:g.64993318_64993323del, NC_000015.9:g.64993322_64993323del, NC_000015.9:g.64993323del, NC_000015.9:g.64993323dup, NC_000015.9:g.64993322_64993323dup, NC_000015.9:g.64993321_64993323dup, NC_000015.9:g.64993320_64993323dup, NC_000015.9:g.64993319_64993323dup

Select item 14914472182.

rs1491447218 has merged into rs796413997 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 15:64689673 (GRCh38)
15:64981872 (GRCh37)
Canonical SPDI:: NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64689660:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.64689673_64689677del, NC_000015.10:g.64689674_64689677del, NC_000015.10:g.64689675_64689677del, NC_000015.10:g.64689676_64689677del, NC_000015.10:g.64689677del, NC_000015.10:g.64689677dup, NC_000015.10:g.64689676_64689677dup, NC_000015.10:g.64689675_64689677dup, NC_000015.10:g.64689674_64689677dup, NC_000015.10:g.64689673_64689677dup, NC_000015.9:g.64981872_64981876del, NC_000015.9:g.64981873_64981876del, NC_000015.9:g.64981874_64981876del, NC_000015.9:g.64981875_64981876del, NC_000015.9:g.64981876del, NC_000015.9:g.64981876dup, NC_000015.9:g.64981875_64981876dup, NC_000015.9:g.64981874_64981876dup, NC_000015.9:g.64981873_64981876dup, NC_000015.9:g.64981872_64981876dup

Select item 14913595833.

rs1491359583 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:64688196 (GRCh38)
15:64980395 (GRCh37)
Canonical SPDI:: NC_000015.10:64688193:AGAG:AG
Gene:: OAZ2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.64688194AG[1], NC_000015.9:g.64980393AG[1], NM_002537.3:c.*507CT[1], NM_002537.2:c.*507CT[1], NM_001301302.1:c.*507CT[1]

Select item 14913529884.

rs1491352988 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:64701124 (GRCh38)
15:64993324 (GRCh37)
Canonical SPDI:: NC_000015.10:64701124::G
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000018/2 (GnomAD)
HGVS:: NC_000015.10:g.64701124_64701125insG, NC_000015.9:g.64993323_64993324insG

Select item 14912528645.

rs1491252864 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAG [Show Flanks]
Chromosome:: 15:64688194 (GRCh38)
15:64980394 (GRCh37)
Canonical SPDI:: NC_000015.10:64688194:GAG:GAGGAG
Gene:: OAZ2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAG=0./0 (ALFA)
GAG=0.000011/3 (TOPMED)
GAG=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64688195_64688197dup, NC_000015.9:g.64980394_64980396dup, NM_002537.3:c.*507_*509dup, NM_002537.2:c.*507_*509dup, NM_001301302.1:c.*507_*509dup

Select item 14911824166.

rs1491182416 has merged into rs869205405 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 15:64694088 (GRCh38)
15:64986287 (GRCh37)
Canonical SPDI:: NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:64694073:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.02306/376 (TOMMO)
HGVS:: NC_000015.10:g.64694088_64694091del, NC_000015.10:g.64694089_64694091del, NC_000015.10:g.64694090_64694091del, NC_000015.10:g.64694091del, NC_000015.10:g.64694091dup, NC_000015.10:g.64694090_64694091dup, NC_000015.10:g.64694089_64694091dup, NC_000015.10:g.64694088_64694091dup, NC_000015.10:g.64694087_64694091dup, NC_000015.9:g.64986287_64986290del, NC_000015.9:g.64986288_64986290del, NC_000015.9:g.64986289_64986290del, NC_000015.9:g.64986290del, NC_000015.9:g.64986290dup, NC_000015.9:g.64986289_64986290dup, NC_000015.9:g.64986288_64986290dup, NC_000015.9:g.64986287_64986290dup, NC_000015.9:g.64986286_64986290dup

Select item 14911294607.

rs1491129460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 15:64689661 (GRCh38)
15:64981861 (GRCh37)
Canonical SPDI:: NC_000015.10:64689661:A:AGA
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.00074/53 (GnomAD)
HGVS:: NC_000015.10:g.64689662_64689663insGA, NC_000015.9:g.64981861_64981862insGA

Select item 14910377408.

rs1491037740 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGTGAGA [Show Flanks]
Chromosome:: 15:64691603 (GRCh38)
15:64983803 (GRCh37)
Canonical SPDI:: NC_000015.10:64691603:GAGAGGGTGAGA:GAGAGGGTGAGAGGGTGAGA
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GAGAGGGT=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.64691608_64691615dup, NC_000015.9:g.64983807_64983814dup

Select item 14908299979.

rs1490829997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:64702283 (GRCh38)
15:64994482 (GRCh37)
Canonical SPDI:: NC_000015.10:64702282:G:C
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.64702283G>C, NC_000015.9:g.64994482G>C

Select item 149030851810.

rs1490308518 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:64704690 (GRCh38)
15:64996889 (GRCh37)
Canonical SPDI:: NC_000015.10:64704689:A:G
Gene:: OAZ2 (Varview), LOC124903507 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.64704690A>G, NC_000015.9:g.64996889A>G

Select item 149026593811.

rs1490265938 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAAAAA>- [Show Flanks]
Chromosome:: 15:64694073 (GRCh38)
15:64986272 (GRCh37)
Canonical SPDI:: NC_000015.10:64694072:CAAAAAA:
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.64694073_64694079del, NC_000015.9:g.64986272_64986278del

Select item 149024243012.

rs1490242430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:64693210 (GRCh38)
15:64985409 (GRCh37)
Canonical SPDI:: NC_000015.10:64693209:G:C
Gene:: OAZ2 (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_000015.10:g.64693210G>C, NC_000015.9:g.64985409G>C

Select item 148993917713.

rs1489939177 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCAT [Show Flanks]
Chromosome:: 15:64687349 (GRCh38)
15:64979549 (GRCh37)
Canonical SPDI:: NC_000015.10:64687349:CAT:CATATCAT
Gene:: OAZ2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATATCAT=0.000066/1 (ALFA)
CATAT=0.000007/1 (GnomAD)
CATAT=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.64687352_64687353insATCAT, NC_000015.9:g.64979551_64979552insATCAT

Select item 148984604614.

rs1489846046 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAATA>- [Show Flanks]
Chromosome:: 15:64701118 (GRCh38)
15:64993317 (GRCh37)
Canonical SPDI:: NC_000015.10:64701116:AAAAAAAATA:A
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.64701118_64701126del, NC_000015.9:g.64993317_64993325del

Select item 148976034515.

rs1489760345 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTA [Show Flanks]
Chromosome:: 15:64704184 (GRCh38)
15:64996384 (GRCh37)
Canonical SPDI:: NC_000015.10:64704184:TTTATTTATTTA:TTTATTTATTTATTTA
Gene:: OAZ2 (Varview), LOC124903507 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTATTTATTTA=0./0 (ALFA)
TTTA=0.000007/1 (GnomAD)
TTTA=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.64704185TTTA[4], NC_000015.9:g.64996384TTTA[4]

Select item 148970149716.

rs1489701497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:64689778 (GRCh38)
15:64981977 (GRCh37)
Canonical SPDI:: NC_000015.10:64689777:A:C
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.64689778A>C, NC_000015.9:g.64981977A>C

Select item 148956725017.

rs1489567250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:64699338 (GRCh38)
15:64991537 (GRCh37)
Canonical SPDI:: NC_000015.10:64699337:G:A,NC_000015.10:64699337:G:T
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.64699338G>A, NC_000015.10:g.64699338G>T, NC_000015.9:g.64991537G>A, NC_000015.9:g.64991537G>T

Select item 148938774018.

rs1489387740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:64691627 (GRCh38)
15:64983826 (GRCh37)
Canonical SPDI:: NC_000015.10:64691626:A:T
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.64691627A>T, NC_000015.9:g.64983826A>T

Select item 148933851119.

rs1489338511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:64698122 (GRCh38)
15:64990321 (GRCh37)
Canonical SPDI:: NC_000015.10:64698121:C:T
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.64698122C>T, NC_000015.9:g.64990321C>T

Select item 148864012420.

rs1488640124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:64699289 (GRCh38)
15:64991488 (GRCh37)
Canonical SPDI:: NC_000015.10:64699288:G:A
Gene:: OAZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.64699289G>A, NC_000015.9:g.64991488G>A

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