SNP Links for Gene (Select 344022) - SNP

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Select item 14913291021.

rs1491329102 has merged into rs1189040660 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:73204109 (GRCh38)
2:73431237 (GRCh37)
Canonical SPDI:: NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:73204098:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.73204109_73204119del, NC_000002.12:g.73204110_73204119del, NC_000002.12:g.73204112_73204119del, NC_000002.12:g.73204113_73204119del, NC_000002.12:g.73204114_73204119del, NC_000002.12:g.73204116_73204119del, NC_000002.12:g.73204117_73204119del, NC_000002.12:g.73204118_73204119del, NC_000002.12:g.73204119del, NC_000002.12:g.73204119dup, NC_000002.12:g.73204118_73204119dup, NC_000002.12:g.73204117_73204119dup, NC_000002.12:g.73204116_73204119dup, NC_000002.12:g.73204114_73204119dup, NC_000002.11:g.73431237_73431247del, NC_000002.11:g.73431238_73431247del, NC_000002.11:g.73431240_73431247del, NC_000002.11:g.73431241_73431247del, NC_000002.11:g.73431242_73431247del, NC_000002.11:g.73431244_73431247del, NC_000002.11:g.73431245_73431247del, NC_000002.11:g.73431246_73431247del, NC_000002.11:g.73431247del, NC_000002.11:g.73431247dup, NC_000002.11:g.73431246_73431247dup, NC_000002.11:g.73431245_73431247dup, NC_000002.11:g.73431244_73431247dup, NC_000002.11:g.73431242_73431247dup

Select item 14913173072.

rs1491317307 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:73206787 (GRCh38)
2:73433915 (GRCh37)
Canonical SPDI:: NC_000002.12:73206786:CT:
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000002.12:g.73206787_73206788del, NC_000002.11:g.73433915_73433916del

Select item 14912664343.

rs1491266434 has merged into rs969908382 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:73206801 (GRCh38)
2:73433929 (GRCh37)
Canonical SPDI:: NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:73206787:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.73206801_73206812del, NC_000002.12:g.73206802_73206812del, NC_000002.12:g.73206803_73206812del, NC_000002.12:g.73206804_73206812del, NC_000002.12:g.73206805_73206812del, NC_000002.12:g.73206806_73206812del, NC_000002.12:g.73206807_73206812del, NC_000002.12:g.73206808_73206812del, NC_000002.12:g.73206809_73206812del, NC_000002.12:g.73206810_73206812del, NC_000002.12:g.73206811_73206812del, NC_000002.12:g.73206812del, NC_000002.12:g.73206812dup, NC_000002.12:g.73206811_73206812dup, NC_000002.12:g.73206810_73206812dup, NC_000002.12:g.73206809_73206812dup, NC_000002.12:g.73206808_73206812dup, NC_000002.12:g.73206807_73206812dup, NC_000002.12:g.73206812_73206813insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.73433929_73433940del, NC_000002.11:g.73433930_73433940del, NC_000002.11:g.73433931_73433940del, NC_000002.11:g.73433932_73433940del, NC_000002.11:g.73433933_73433940del, NC_000002.11:g.73433934_73433940del, NC_000002.11:g.73433935_73433940del, NC_000002.11:g.73433936_73433940del, NC_000002.11:g.73433937_73433940del, NC_000002.11:g.73433938_73433940del, NC_000002.11:g.73433939_73433940del, NC_000002.11:g.73433940del, NC_000002.11:g.73433940dup, NC_000002.11:g.73433939_73433940dup, NC_000002.11:g.73433938_73433940dup, NC_000002.11:g.73433937_73433940dup, NC_000002.11:g.73433936_73433940dup, NC_000002.11:g.73433935_73433940dup, NC_000002.11:g.73433940_73433941insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911241424.

rs1491124142 [Homo sapiens]

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

Select item 14907307655.

rs1490730765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:73204737 (GRCh38)
2:73431865 (GRCh37)
Canonical SPDI:: NC_000002.12:73204736:C:G
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000036/5 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.73204737C>G, NC_000002.11:g.73431865C>G

Select item 14905564636.

rs1490556463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:73203528 (GRCh38)
2:73430656 (GRCh37)
Canonical SPDI:: NC_000002.12:73203527:T:C
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.73203528T>C, NC_000002.11:g.73430656T>C

Select item 14902643967.

rs1490264396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:73204227 (GRCh38)
2:73431355 (GRCh37)
Canonical SPDI:: NC_000002.12:73204226:G:A
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.73204227G>A, NC_000002.11:g.73431355G>A

Select item 14901343628.

rs1490134362 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:73201549 (GRCh38)
2:73428677 (GRCh37)
Canonical SPDI:: NC_000002.12:73201547:ATA:A
Gene:: NOTO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.73201549_73201550del, NC_000002.11:g.73428677_73428678del

Select item 14899152359.

rs1489915235 [Homo sapiens]

Variant type:: DEL
Alleles:: TTG>- [Show Flanks]
Chromosome:: 2:73203857 (GRCh38)
2:73430985 (GRCh37)
Canonical SPDI:: NC_000002.12:73203856:TTG:
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01661/71 (ALFA)
-=0.00085/14 (TOMMO)
-=0.00273/5 (Korea1K)
HGVS:: NC_000002.12:g.73203857_73203859del, NC_000002.11:g.73430985_73430987del

Select item 148946074710.

rs1489460747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:73205602 (GRCh38)
2:73432730 (GRCh37)
Canonical SPDI:: NC_000002.12:73205601:G:A,NC_000002.12:73205601:G:C
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
A=0.007892/132 (TOMMO)
HGVS:: NC_000002.12:g.73205602G>A, NC_000002.12:g.73205602G>C, NC_000002.11:g.73432730G>A, NC_000002.11:g.73432730G>C

Select item 148911715311.

rs1489117153 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 2:73203866 (GRCh38)
2:73430995 (GRCh37)
Canonical SPDI:: NC_000002.12:73203866::AG
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0.0068/29 (ALFA)
AG=0.00043/7 (TOMMO)
AG=0.00348/2 (NorthernSweden)
HGVS:: NC_000002.12:g.73203866_73203867insAG, NC_000002.11:g.73430994_73430995insAG

Select item 148786800312.

rs1487868003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73207183 (GRCh38)
2:73434311 (GRCh37)
Canonical SPDI:: NC_000002.12:73207182:C:T
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.73207183C>T, NC_000002.11:g.73434311C>T

Select item 148774082513.

rs1487740825 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:73200901 (GRCh38)
2:73428029 (GRCh37)
Canonical SPDI:: NC_000002.12:73200900:GG:G
Gene:: NOTO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.73200902del, NC_000002.11:g.73428030del

Select item 148717532214.

rs1487175322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73206097 (GRCh38)
2:73433225 (GRCh37)
Canonical SPDI:: NC_000002.12:73206096:C:T
Gene:: NOTO (Varview)
Functional Consequence:: intron_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_000002.12:g.73206097C>T, NC_000002.11:g.73433225C>T

Select item 148626459815.

rs1486264598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:73207699 (GRCh38)
2:73434827 (GRCh37)
Canonical SPDI:: NC_000002.12:73207698:C:T
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.73207699C>T, NC_000002.11:g.73434827C>T

Select item 148619208716.

rs1486192087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:73206578 (GRCh38)
2:73433706 (GRCh37)
Canonical SPDI:: NC_000002.12:73206577:A:G
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.73206578A>G, NC_000002.11:g.73433706A>G

Select item 148602289617.

rs1486022896 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTT>- [Show Flanks]
Chromosome:: 2:73204887 (GRCh38)
2:73432015 (GRCh37)
Canonical SPDI:: NC_000002.12:73204882:TTTTATTTT:TTTT
Gene:: NOTO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00995/44 (ALFA)
-=0.0003/5 (TOMMO)
-=0.00056/1 (Korea1K)
-=0.06758/6459 (GnomAD)
HGVS:: NC_000002.12:g.73204887_73204891del, NC_000002.11:g.73432015_73432019del

Select item 148572103018.

rs1485721030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:73200392 (GRCh38)
2:73427520 (GRCh37)
Canonical SPDI:: NC_000002.12:73200391:T:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.73200392T>A, NC_000002.11:g.73427520T>A

Select item 148565916819.

rs1485659168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:73200921 (GRCh38)
2:73428049 (GRCh37)
Canonical SPDI:: NC_000002.12:73200920:T:C,NC_000002.12:73200920:T:G
Gene:: NOTO (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.73200921T>C, NC_000002.12:g.73200921T>G, NC_000002.11:g.73428049T>C, NC_000002.11:g.73428049T>G

Select item 148565878220.

rs1485658782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:73208590 (GRCh38)
2:73435718 (GRCh37)
Canonical SPDI:: NC_000002.12:73208589:T:C
Gene:: NOTO (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000002.12:g.73208590T>C, NC_000002.11:g.73435718T>C, NM_001134462.2:c.573T>C, NM_001134462.1:c.573T>C

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