SNP Links for Gene (Select 84217) - SNP

Links from Gene

Items: 1 to 20 of 6177

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Select item 14910873241.

rs1491087324 has merged into rs573648674 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:42445441 (GRCh38)
1:42911112 (GRCh37)
Canonical SPDI:: NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:42445431:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.375/3 (KOREAN)
HGVS:: NC_000001.11:g.42445441_42445449del, NC_000001.11:g.42445446_42445449del, NC_000001.11:g.42445447_42445449del, NC_000001.11:g.42445448_42445449del, NC_000001.11:g.42445449del, NC_000001.11:g.42445449dup, NC_000001.11:g.42445448_42445449dup, NC_000001.11:g.42445447_42445449dup, NC_000001.10:g.42911112_42911120del, NC_000001.10:g.42911117_42911120del, NC_000001.10:g.42911118_42911120del, NC_000001.10:g.42911119_42911120del, NC_000001.10:g.42911120del, NC_000001.10:g.42911120dup, NC_000001.10:g.42911119_42911120dup, NC_000001.10:g.42911118_42911120dup

Select item 14910107692.

rs1491010769 has merged into rs56897340 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 1:42440200 (GRCh38)
1:42905871 (GRCh37)
Canonical SPDI:: NC_000001.11:42440187:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:42440187:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:42440187:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:42440187:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.05442/32 (NorthernSweden)
A=0.2/8 (GENOME_DK)
HGVS:: NC_000001.11:g.42440200_42440201del, NC_000001.11:g.42440201del, NC_000001.11:g.42440201dup, NC_000001.11:g.42440200_42440201dup, NC_000001.10:g.42905871_42905872del, NC_000001.10:g.42905872del, NC_000001.10:g.42905872dup, NC_000001.10:g.42905871_42905872dup

Select item 14907641373.

rs1490764137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:42432666 (GRCh38)
1:42898337 (GRCh37)
Canonical SPDI:: NC_000001.11:42432665:A:G
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.42432666A>G, NC_000001.10:g.42898337A>G

Select item 14907524674.

rs1490752467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42438651 (GRCh38)
1:42904322 (GRCh37)
Canonical SPDI:: NC_000001.11:42438650:T:C
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42438651T>C, NC_000001.10:g.42904322T>C

Select item 14907010855.

rs1490701085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:42456366 (GRCh38)
1:42922037 (GRCh37)
Canonical SPDI:: NC_000001.11:42456365:C:A,NC_000001.11:42456365:C:T
Gene:: PPCS (Varview), ZMYND12 (Varview), CCDC30 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.42456366C>A, NC_000001.11:g.42456366C>T, NC_000001.10:g.42922037C>A, NC_000001.10:g.42922037C>T, NM_001355226.2:c.-1117C>A, NM_001355226.2:c.-1117C>T, NM_001355226.1:c.-1117C>A, NM_001355226.1:c.-1117C>T, NM_001287507.1:c.-461C>A, NM_001287507.1:c.-461C>T, NM_001287506.1:c.-145C>A, NM_001287506.1:c.-145C>T

Select item 14906018866.

rs1490601886 has merged into rs1320191014 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:42439770 (GRCh38)
1:42905441 (GRCh37)
Canonical SPDI:: NC_000001.11:42439769:AAAAAAA:AAAAAA,NC_000001.11:42439769:AAAAAAA:AAAAAAAA
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.42439776del, NC_000001.11:g.42439776dup, NC_000001.10:g.42905447del, NC_000001.10:g.42905447dup

Select item 14905911147.

rs1490591114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:42438299 (GRCh38)
1:42903970 (GRCh37)
Canonical SPDI:: NC_000001.11:42438298:T:A
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.42438299T>A, NC_000001.10:g.42903970T>A

Select item 14904934058.

rs1490493405 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:42430953 (GRCh38)
1:42896624 (GRCh37)
Canonical SPDI:: NC_000001.11:42430952:AA:
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42430953_42430954del, NC_000001.10:g.42896624_42896625del

Select item 14904779009.

rs1490477900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42455964 (GRCh38)
1:42921635 (GRCh37)
Canonical SPDI:: NC_000001.11:42455963:C:T
Gene:: PPCS (Varview), ZMYND12 (Varview), CCDC30 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.42455964C>T, NC_000001.10:g.42921635C>T, NM_032257.5:c.34G>A, NM_032257.4:c.34G>A, NM_001146192.2:c.-125G>A, NM_001146192.1:c.-125G>A, NP_115633.3:p.Gly12Arg

Select item 149035547610.

rs1490355476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:42431063 (GRCh38)
1:42896734 (GRCh37)
Canonical SPDI:: NC_000001.11:42431062:C:T
Gene:: ZMYND12 (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_000001.11:g.42431063C>T, NC_000001.10:g.42896734C>T

Select item 149032272711.

rs1490322727 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATAAATGTATTCA>- [Show Flanks]
Chromosome:: 1:42452826 (GRCh38)
1:42918497 (GRCh37)
Canonical SPDI:: NC_000001.11:42452824:AAATAAATGTATTCA:A
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000185/26 (GnomAD)
-=0.001667/1 (NorthernSweden)
HGVS:: NC_000001.11:g.42452826_42452839del, NC_000001.10:g.42918497_42918510del

Select item 149021951112.

rs1490219511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42450238 (GRCh38)
1:42915909 (GRCh37)
Canonical SPDI:: NC_000001.11:42450237:T:C
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.001711/5 (KOREAN)
HGVS:: NC_000001.11:g.42450238T>C, NC_000001.10:g.42915909T>C

Select item 149015169213.

rs1490151692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:42437464 (GRCh38)
1:42903135 (GRCh37)
Canonical SPDI:: NC_000001.11:42437463:G:T
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.42437464G>T, NC_000001.10:g.42903135G>T

Select item 148983344714.

rs1489833447 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:42454721 (GRCh38)
1:42920392 (GRCh37)
Canonical SPDI:: NC_000001.11:42454720:G:
Gene:: PPCS (Varview), ZMYND12 (Varview), CCDC30 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.42454721del, NC_000001.10:g.42920392del

Select item 148983149115.

rs1489831491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:42453833 (GRCh38)
1:42919504 (GRCh37)
Canonical SPDI:: NC_000001.11:42453832:A:C
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.42453833A>C, NC_000001.10:g.42919504A>C

Select item 148980759916.

rs1489807599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42453518 (GRCh38)
1:42919189 (GRCh37)
Canonical SPDI:: NC_000001.11:42453517:T:C
Gene:: ZMYND12 (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_000001.11:g.42453518T>C, NC_000001.10:g.42919189T>C

Select item 148978513517.

rs1489785135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:42437028 (GRCh38)
1:42902699 (GRCh37)
Canonical SPDI:: NC_000001.11:42437027:T:G
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.42437028T>G, NC_000001.10:g.42902699T>G

Select item 148957368918.

rs1489573689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:42432588 (GRCh38)
1:42898259 (GRCh37)
Canonical SPDI:: NC_000001.11:42432587:T:C
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.42432588T>C, NC_000001.10:g.42898259T>C

Select item 148916453819.

rs1489164538 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:42433098 (GRCh38)
1:42898769 (GRCh37)
Canonical SPDI:: NC_000001.11:42433097:TTT:TT
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.42433100del, NC_000001.10:g.42898771del

Select item 148897676220.

rs1488976762 [Homo sapiens]

Variant type:: DEL
Alleles:: AAGGAAATTCACCAAAA>- [Show Flanks]
Chromosome:: 1:42452848 (GRCh38)
1:42918519 (GRCh37)
Canonical SPDI:: NC_000001.11:42452847:AAGGAAATTCACCAAAA:
Gene:: ZMYND12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.42452848_42452864del, NC_000001.10:g.42918519_42918535del

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