SNP Links for Gene (Select 150356) - SNP

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Select item 14915711311.

rs1491571131 has merged into rs71200672 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:41211571 (GRCh38)
22:41607575 (GRCh37)
Canonical SPDI:: NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41211557:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4391/2199 (1000Genomes)
HGVS:: NC_000022.11:g.41211571_41211574del, NC_000022.11:g.41211572_41211574del, NC_000022.11:g.41211573_41211574del, NC_000022.11:g.41211574del, NC_000022.11:g.41211574dup, NC_000022.11:g.41211573_41211574dup, NC_000022.11:g.41211566_41211574dup, NC_000022.11:g.41211565_41211574dup, NC_000022.11:g.41211564_41211574dup, NC_000022.11:g.41211563_41211574dup, NC_000022.11:g.41211562_41211574dup, NC_000022.11:g.41211561_41211574dup, NC_000022.11:g.41211560_41211574dup, NC_000022.10:g.41607575_41607578del, NC_000022.10:g.41607576_41607578del, NC_000022.10:g.41607577_41607578del, NC_000022.10:g.41607578del, NC_000022.10:g.41607578dup, NC_000022.10:g.41607577_41607578dup, NC_000022.10:g.41607570_41607578dup, NC_000022.10:g.41607569_41607578dup, NC_000022.10:g.41607568_41607578dup, NC_000022.10:g.41607567_41607578dup, NC_000022.10:g.41607566_41607578dup, NC_000022.10:g.41607565_41607578dup, NC_000022.10:g.41607564_41607578dup

Select item 14915115992.

rs1491511599 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 22:41220660 (GRCh38)
22:41616665 (GRCh37)
Canonical SPDI:: NC_000022.11:41220660:A:AGA
Gene:: L3MBTL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AG=0.00001/1 (GnomAD)
HGVS:: NC_000022.11:g.41220661_41220662insGA, NC_000022.10:g.41616665_41616666insGA

Select item 14914981003.

rs1491498100 has merged into rs10553071 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 22:41212408 (GRCh38)
22:41608412 (GRCh37)
Canonical SPDI:: NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000022.11:41212396:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3748/1877 (1000Genomes)
HGVS:: NC_000022.11:g.41212408_41212414del, NC_000022.11:g.41212410_41212414del, NC_000022.11:g.41212411_41212414del, NC_000022.11:g.41212412_41212414del, NC_000022.11:g.41212413_41212414del, NC_000022.11:g.41212414del, NC_000022.11:g.41212414dup, NC_000022.11:g.41212413_41212414dup, NC_000022.11:g.41212412_41212414dup, NC_000022.11:g.41212411_41212414dup, NC_000022.11:g.41212410_41212414dup, NC_000022.11:g.41212409_41212414dup, NC_000022.10:g.41608412_41608418del, NC_000022.10:g.41608414_41608418del, NC_000022.10:g.41608415_41608418del, NC_000022.10:g.41608416_41608418del, NC_000022.10:g.41608417_41608418del, NC_000022.10:g.41608418del, NC_000022.10:g.41608418dup, NC_000022.10:g.41608417_41608418dup, NC_000022.10:g.41608416_41608418dup, NC_000022.10:g.41608415_41608418dup, NC_000022.10:g.41608414_41608418dup, NC_000022.10:g.41608413_41608418dup

Select item 14912911424.

rs1491291142 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:41212396 (GRCh38)
22:41608400 (GRCh37)
Canonical SPDI:: NC_000022.11:41212395:CT:
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.41212396_41212397del, NC_000022.10:g.41608400_41608401del

Select item 14912867245.

rs1491286724 has merged into rs397867987 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 22:41220669 (GRCh38)
22:41616673 (GRCh37)
Canonical SPDI:: NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:41220659:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: L3MBTL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.06701/39 (NorthernSweden)
-=0.33107/1658 (1000Genomes)
HGVS:: NC_000022.11:g.41220669_41220675del, NC_000022.11:g.41220672_41220675del, NC_000022.11:g.41220673_41220675del, NC_000022.11:g.41220674_41220675del, NC_000022.11:g.41220675del, NC_000022.11:g.41220675dup, NC_000022.11:g.41220674_41220675dup, NC_000022.11:g.41220673_41220675dup, NC_000022.10:g.41616673_41616679del, NC_000022.10:g.41616676_41616679del, NC_000022.10:g.41616677_41616679del, NC_000022.10:g.41616678_41616679del, NC_000022.10:g.41616679del, NC_000022.10:g.41616679dup, NC_000022.10:g.41616678_41616679dup, NC_000022.10:g.41616677_41616679dup

Select item 14912481816.

rs1491248181 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 22:41239638 (GRCh38)
22:41635642 (GRCh37)
Canonical SPDI:: NC_000022.11:41239634:GAGAG:GAG
Gene:: CHADL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD_exomes)
-=0.000076/1 (ExAC)
HGVS:: NC_000022.11:g.41239636AG[1], NC_000022.10:g.41635640AG[1]

Select item 14910829747.

rs1491082974 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:41210142 (GRCh38)
22:41606147 (GRCh37)
Canonical SPDI:: NC_000022.11:41210142:C:CC
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000022.11:g.41210143dup, NC_000022.10:g.41606147dup

Select item 14910675868.

rs1491067586 has merged into rs139449 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 22:41213470 (GRCh38)
22:41609474 (GRCh37)
Canonical SPDI:: NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000022.11:41213457:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.0011/4 (TWINSUK)
T=0.0023/9 (ALSPAC)
T=0.3405/1705 (1000Genomes)
HGVS:: NC_000022.11:g.41213470_41213473del, NC_000022.11:g.41213471_41213473del, NC_000022.11:g.41213472_41213473del, NC_000022.11:g.41213473del, NC_000022.11:g.41213473dup, NC_000022.11:g.41213472_41213473dup, NC_000022.11:g.41213471_41213473dup, NC_000022.11:g.41213469_41213473dup, NC_000022.10:g.41609474_41609477del, NC_000022.10:g.41609475_41609477del, NC_000022.10:g.41609476_41609477del, NC_000022.10:g.41609477del, NC_000022.10:g.41609477dup, NC_000022.10:g.41609476_41609477dup, NC_000022.10:g.41609475_41609477dup, NC_000022.10:g.41609473_41609477dup

Select item 14910009969.

rs1491000996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:41212684 (GRCh38)
22:41608688 (GRCh37)
Canonical SPDI:: NC_000022.11:41212683:A:C
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000022.11:g.41212684A>C, NC_000022.10:g.41608688A>C

Select item 149087008610.

rs1490870086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:41238686 (GRCh38)
22:41634690 (GRCh37)
Canonical SPDI:: NC_000022.11:41238685:G:A,NC_000022.11:41238685:G:C,NC_000022.11:41238685:G:T
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000014/2 (GnomAD_exomes)
C=0.000156/1 (1000Genomes)
A=0.000248/4 (TOMMO)
HGVS:: NC_000022.11:g.41238686G>A, NC_000022.11:g.41238686G>C, NC_000022.11:g.41238686G>T, NC_000022.10:g.41634690G>A, NC_000022.10:g.41634690G>C, NC_000022.10:g.41634690G>T, NM_138481.2:c.386C>T, NM_138481.2:c.386C>G, NM_138481.2:c.386C>A, NM_138481.1:c.386C>T, NM_138481.1:c.386C>G, NM_138481.1:c.386C>A, NP_612490.1:p.Ala129Val, NP_612490.1:p.Ala129Gly, NP_612490.1:p.Ala129Glu

Select item 149080669211.

rs1490806692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:41241359 (GRCh38)
22:41637363 (GRCh37)
Canonical SPDI:: NC_000022.11:41241358:T:G
Gene:: CHADL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41241359T>G, NC_000022.10:g.41637363T>G

Select item 149051139812.

rs1490511398 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:41213061 (GRCh38)
22:41609065 (GRCh37)
Canonical SPDI:: NC_000022.11:41213057:ACACA:ACA
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.41213059CA[1], NC_000022.10:g.41609063CA[1]

Select item 149037862813.

rs1490378628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:41239465 (GRCh38)
22:41635469 (GRCh37)
Canonical SPDI:: NC_000022.11:41239464:T:G
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41239465T>G, NC_000022.10:g.41635469T>G, NM_138481.2:c.164A>C, NM_138481.1:c.164A>C, NP_612490.1:p.Glu55Ala

Select item 149019418914.

rs1490194189 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:41221590 (GRCh38)
22:41617594 (GRCh37)
Canonical SPDI:: NC_000022.11:41221589:A:G
Gene:: L3MBTL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41221590A>G, NC_000022.10:g.41617594A>G

Select item 149004909415.

rs1490049094 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGGGCCTCGGGGGCCAGC>- [Show Flanks]
Chromosome:: 22:41238466 (GRCh38)
22:41634470 (GRCh37)
Canonical SPDI:: NC_000022.11:41238458:GGCCAGCCAGGGCCTCGGGGGCCAGC:GGCCAGC
Gene:: CHADL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCCAGC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.41238466_41238484del, NC_000022.10:g.41634470_41634488del, NM_138481.2:c.595_613del, NM_138481.1:c.595_613del, NP_612490.1:p.Pro199fs

Select item 149001470716.

rs1490014707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:41213436 (GRCh38)
22:41609440 (GRCh37)
Canonical SPDI:: NC_000022.11:41213435:C:A,NC_000022.11:41213435:C:T
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.41213436C>A, NC_000022.11:g.41213436C>T, NC_000022.10:g.41609440C>A, NC_000022.10:g.41609440C>T

Select item 149001356217.

rs1490013562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41213916 (GRCh38)
22:41609920 (GRCh37)
Canonical SPDI:: NC_000022.11:41213915:G:A
Gene:: L3MBTL2 (Varview), L3MBTL2-AS1 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41213916G>A, NC_000022.10:g.41609920G>A, NM_031488.5:c.286G>A, NM_031488.4:c.286G>A, NM_001003689.1:c.286G>A, NR_148200.1:n.1384C>T, XM_047441536.1:c.286G>A, NP_113676.2:p.Val96Met, XP_047297492.1:p.Val96Met

Select item 148995632718.

rs1489956327 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41235432 (GRCh38)
22:41631436 (GRCh37)
Canonical SPDI:: NC_000022.11:41235431:G:A
Gene:: CHADL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41235432G>A, NC_000022.10:g.41631436G>A

Select item 148988463619.

rs1489884636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41229598 (GRCh38)
22:41625602 (GRCh37)
Canonical SPDI:: NC_000022.11:41229597:G:A
Gene:: L3MBTL2 (Varview), CHADL (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.41229598G>A, NC_000022.10:g.41625602G>A, NM_031488.5:c.1947G>A, NM_031488.4:c.1947G>A, XM_017028976.2:c.1695G>A, XM_017028976.1:c.1695G>A, XM_017028977.2:c.1617G>A, XM_017028977.1:c.1617G>A, NM_138481.2:c.*106C>T, NM_138481.1:c.*106C>T, NM_001003689.1:c.*207G>A, XM_047441537.1:c.1317G>A

Select item 148984055720.

rs1489840557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41220263 (GRCh38)
22:41616267 (GRCh37)
Canonical SPDI:: NC_000022.11:41220262:C:T
Gene:: L3MBTL2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
T=0.000071/10 (GnomAD)
HGVS:: NC_000022.11:g.41220263C>T, NC_000022.10:g.41616267C>T

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