SNP Links for Gene (Select 257629) - SNP

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Select item 14912329471.

rs1491232947 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:21251932 (GRCh38)
16:21263253 (GRCh37)
Canonical SPDI:: NC_000016.10:21251931:CT:
Gene:: ANKS4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.000142/2 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000016.10:g.21251932_21251933del, NC_000016.9:g.21263253_21263254del, NW_017852933.1:g.75623_75624del, NM_145865.3:c.*1112_*1113del, NM_145865.2:c.*1112_*1113del

Select item 14911860412.

rs1491186041 has merged into rs35457248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:21251941 (GRCh38)
16:21263262 (GRCh37)
Canonical SPDI:: NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:21251932:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ANKS4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0444/171 (ALSPAC)
T=0.3413/1709 (1000Genomes)
HGVS:: NC_000016.10:g.21251941_21251949del, NC_000016.10:g.21251945_21251949del, NC_000016.10:g.21251946_21251949del, NC_000016.10:g.21251947_21251949del, NC_000016.10:g.21251948_21251949del, NC_000016.10:g.21251949del, NC_000016.10:g.21251949dup, NC_000016.10:g.21251948_21251949dup, NC_000016.10:g.21251947_21251949dup, NC_000016.10:g.21251946_21251949dup, NC_000016.9:g.21263262_21263270del, NC_000016.9:g.21263266_21263270del, NC_000016.9:g.21263267_21263270del, NC_000016.9:g.21263268_21263270del, NC_000016.9:g.21263269_21263270del, NC_000016.9:g.21263270del, NC_000016.9:g.21263270dup, NC_000016.9:g.21263269_21263270dup, NC_000016.9:g.21263268_21263270dup, NC_000016.9:g.21263267_21263270dup, NW_017852933.1:g.75632_75640del, NW_017852933.1:g.75636_75640del, NW_017852933.1:g.75637_75640del, NW_017852933.1:g.75638_75640del, NW_017852933.1:g.75639_75640del, NW_017852933.1:g.75640del, NW_017852933.1:g.75640dup, NW_017852933.1:g.75639_75640dup, NW_017852933.1:g.75638_75640dup, NW_017852933.1:g.75637_75640dup, NM_145865.3:c.*1121_*1129del, NM_145865.3:c.*1125_*1129del, NM_145865.3:c.*1126_*1129del, NM_145865.3:c.*1127_*1129del, NM_145865.3:c.*1128_*1129del, NM_145865.3:c.*1129del, NM_145865.3:c.*1129dup, NM_145865.3:c.*1128_*1129dup, NM_145865.3:c.*1127_*1129dup, NM_145865.3:c.*1126_*1129dup, NM_145865.2:c.*1121_*1129del, NM_145865.2:c.*1125_*1129del, NM_145865.2:c.*1126_*1129del, NM_145865.2:c.*1127_*1129del, NM_145865.2:c.*1128_*1129del, NM_145865.2:c.*1129del, NM_145865.2:c.*1129dup, NM_145865.2:c.*1128_*1129dup, NM_145865.2:c.*1127_*1129dup, NM_145865.2:c.*1126_*1129dup

Select item 14910200483.

rs1491020048 has merged into rs35450922 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 16:21237605 (GRCh38)
16:21248926 (GRCh37)
Canonical SPDI:: NC_000016.10:21237593:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:21237593:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:21237593:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:21237593:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:21237593:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:21237593:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:21237593:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2145/1074 (1000Genomes)
HGVS:: NC_000016.10:g.21237605_21237607del, NC_000016.10:g.21237606_21237607del, NC_000016.10:g.21237607del, NC_000016.10:g.21237607dup, NC_000016.10:g.21237606_21237607dup, NC_000016.10:g.21237605_21237607dup, NC_000016.10:g.21237604_21237607dup, NC_000016.9:g.21248926_21248928del, NC_000016.9:g.21248927_21248928del, NC_000016.9:g.21248928del, NC_000016.9:g.21248928dup, NC_000016.9:g.21248927_21248928dup, NC_000016.9:g.21248926_21248928dup, NC_000016.9:g.21248925_21248928dup, NW_017852933.1:g.61296_61298del, NW_017852933.1:g.61297_61298del, NW_017852933.1:g.61298del, NW_017852933.1:g.61298dup, NW_017852933.1:g.61297_61298dup, NW_017852933.1:g.61296_61298dup, NW_017852933.1:g.61295_61298dup

Select item 14909084914.

rs1490908491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21242495 (GRCh38)
16:21253816 (GRCh37)
Canonical SPDI:: NC_000016.10:21242494:C:T
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.21242495C>T, NC_000016.9:g.21253816C>T, NW_017852933.1:g.66186C>T

Select item 14907196955.

rs1490719695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:21239341 (GRCh38)
16:21250662 (GRCh37)
Canonical SPDI:: NC_000016.10:21239340:G:A
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000038/10 (TOPMED)
A=0.000142/2 (TOMMO)
A=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.21239341G>A, NC_000016.9:g.21250662G>A, NW_017852933.1:g.63032G>A

Select item 14905917426.

rs1490591742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:21237698 (GRCh38)
16:21249019 (GRCh37)
Canonical SPDI:: NC_000016.10:21237697:A:G
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/7 (GnomAD)
G=0.000079/21 (TOPMED)
HGVS:: NC_000016.10:g.21237698A>G, NC_000016.9:g.21249019A>G, NW_017852933.1:g.61389A>G

Select item 14905651417.

rs1490565141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:21233809 (GRCh38)
16:21245130 (GRCh37)
Canonical SPDI:: NC_000016.10:21233808:T:C
Gene:: ANKS4B (Varview), LOC105371123 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.21233809T>C, NC_000016.9:g.21245130T>C, NW_017852933.1:g.57500T>C, NM_145865.3:c.72T>C, NM_145865.2:c.72T>C

Select item 14905562498.

rs1490556249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:21240505 (GRCh38)
16:21251826 (GRCh37)
Canonical SPDI:: NC_000016.10:21240504:T:G
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.21240505T>G, NC_000016.9:g.21251826T>G, NW_017852933.1:g.64196T>G

Select item 14904347679.

rs1490434767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:21242752 (GRCh38)
16:21254073 (GRCh37)
Canonical SPDI:: NC_000016.10:21242751:C:G,NC_000016.10:21242751:C:T
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.21242752C>G, NC_000016.10:g.21242752C>T, NC_000016.9:g.21254073C>G, NC_000016.9:g.21254073C>T, NW_017852933.1:g.66443C>G, NW_017852933.1:g.66443C>T

Select item 149023418410.

rs1490234184 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:21251364 (GRCh38)
16:21262686 (GRCh37)
Canonical SPDI:: NC_000016.10:21251364:T:TT
Gene:: ANKS4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.21251365dup, NC_000016.9:g.21262686dup, NW_017852933.1:g.75056dup, NM_145865.3:c.*545dup, NM_145865.2:c.*545dup

Select item 148933516311.

rs1489335163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21241569 (GRCh38)
16:21252890 (GRCh37)
Canonical SPDI:: NC_000016.10:21241568:C:T
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.21241569C>T, NC_000016.9:g.21252890C>T, NW_017852933.1:g.65260C>T

Select item 148929491512.

rs1489294915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:21252853 (GRCh38)
16:21264174 (GRCh37)
Canonical SPDI:: NC_000016.10:21252852:G:A
Gene:: ANKS4B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000016.10:g.21252853G>A, NC_000016.9:g.21264174G>A, NW_017852933.1:g.76544G>A, NM_145865.3:c.*2033G>A

Select item 148918887413.

rs1489188874 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:21241815 (GRCh38)
16:21253136 (GRCh37)
Canonical SPDI:: NC_000016.10:21241814:A:
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.21241815del, NC_000016.9:g.21253136del, NW_017852933.1:g.65506del

Select item 148908739314.

rs1489087393 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 148907993615.

rs1489079936 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:21249537 (GRCh38)
16:21260858 (GRCh37)
Canonical SPDI:: NC_000016.10:21249536:GG:G
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.21249538del, NC_000016.9:g.21260859del, NW_017852933.1:g.73229del

Select item 148902190316.

rs1489021903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:21235815 (GRCh38)
16:21247136 (GRCh37)
Canonical SPDI:: NC_000016.10:21235814:G:A
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.21235815G>A, NC_000016.9:g.21247136G>A, NW_017852933.1:g.59506G>A

Select item 148896142517.

rs1488961425 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:21232568 (GRCh38)
16:21243889 (GRCh37)
Canonical SPDI:: NC_000016.10:21232567:T:C
Gene:: ANKS4B (Varview), LOC105371123 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.21232568T>C, NC_000016.9:g.21243889T>C, NW_017852933.1:g.56259T>C

Select item 148889803118.

rs1488898031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:21245515 (GRCh38)
16:21256836 (GRCh37)
Canonical SPDI:: NC_000016.10:21245514:C:A
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.21245515C>A, NC_000016.9:g.21256836C>A, NW_017852933.1:g.69206C>A

Select item 148866443519.

rs1488664435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21245143 (GRCh38)
16:21256464 (GRCh37)
Canonical SPDI:: NC_000016.10:21245142:C:T
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.21245143C>T, NC_000016.9:g.21256464C>T, NW_017852933.1:g.68834C>T

Select item 148828823120.

rs1488288231 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:21235629 (GRCh38)
16:21246950 (GRCh37)
Canonical SPDI:: NC_000016.10:21235628:C:T
Gene:: ANKS4B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.21235629C>T, NC_000016.9:g.21246950C>T, NW_017852933.1:g.59320C>T