SNP Links for Nucleotide (Select 392050760) - SNP

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Select item 14915463411.

rs1491546341 has merged into rs11359661 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:56463703 (GRCh38)
4:57329869 (GRCh37)
Canonical SPDI:: NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PAICS (Varview), LOC124900706 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2606/1305 (1000Genomes)
HGVS:: NC_000004.12:g.56463703_56463711del, NC_000004.12:g.56463707_56463711del, NC_000004.12:g.56463708_56463711del, NC_000004.12:g.56463709_56463711del, NC_000004.12:g.56463710_56463711del, NC_000004.12:g.56463711del, NC_000004.12:g.56463711dup, NC_000004.12:g.56463710_56463711dup, NC_000004.12:g.56463709_56463711dup, NC_000004.12:g.56463708_56463711dup, NC_000004.12:g.56463705_56463711dup, NC_000004.12:g.56463700_56463711dup, NC_000004.12:g.56463711_56463712insAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.57329869_57329877del, NC_000004.11:g.57329873_57329877del, NC_000004.11:g.57329874_57329877del, NC_000004.11:g.57329875_57329877del, NC_000004.11:g.57329876_57329877del, NC_000004.11:g.57329877del, NC_000004.11:g.57329877dup, NC_000004.11:g.57329876_57329877dup, NC_000004.11:g.57329875_57329877dup, NC_000004.11:g.57329874_57329877dup, NC_000004.11:g.57329871_57329877dup, NC_000004.11:g.57329866_57329877dup, NC_000004.11:g.57329877_57329878insAAAAAAAAAAAAAAAAAAAA, NG_032796.1:g.1108_1116del, NG_032796.1:g.1112_1116del, NG_032796.1:g.1113_1116del, NG_032796.1:g.1114_1116del, NG_032796.1:g.1115_1116del, NG_032796.1:g.1116del, NG_032796.1:g.1116dup, NG_032796.1:g.1115_1116dup, NG_032796.1:g.1114_1116dup, NG_032796.1:g.1113_1116dup, NG_032796.1:g.1110_1116dup, NG_032796.1:g.1105_1116dup, NG_032796.1:g.1116_1117insAAAAAAAAAAAAAAAAAAAA, NM_006452.4:c.*4165_*4173del, NM_006452.4:c.*4169_*4173del, NM_006452.4:c.*4170_*4173del, NM_006452.4:c.*4171_*4173del, NM_006452.4:c.*4172_*4173del, NM_006452.4:c.*4173del, NM_006452.4:c.*4173dup, NM_006452.4:c.*4172_*4173dup, NM_006452.4:c.*4171_*4173dup, NM_006452.4:c.*4170_*4173dup, NM_006452.4:c.*4167_*4173dup, NM_006452.4:c.*4162_*4173dup, NM_006452.4:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, NM_001079525.2:c.*4165_*4173del, NM_001079525.2:c.*4169_*4173del, NM_001079525.2:c.*4170_*4173del, NM_001079525.2:c.*4171_*4173del, NM_001079525.2:c.*4172_*4173del, NM_001079525.2:c.*4173del, NM_001079525.2:c.*4173dup, NM_001079525.2:c.*4172_*4173dup, NM_001079525.2:c.*4171_*4173dup, NM_001079525.2:c.*4170_*4173dup, NM_001079525.2:c.*4167_*4173dup, NM_001079525.2:c.*4162_*4173dup, NM_001079525.2:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, NM_001079524.2:c.*4165_*4173del, NM_001079524.2:c.*4169_*4173del, NM_001079524.2:c.*4170_*4173del, NM_001079524.2:c.*4171_*4173del, NM_001079524.2:c.*4172_*4173del, NM_001079524.2:c.*4173del, NM_001079524.2:c.*4173dup, NM_001079524.2:c.*4172_*4173dup, NM_001079524.2:c.*4171_*4173dup, NM_001079524.2:c.*4170_*4173dup, NM_001079524.2:c.*4167_*4173dup, NM_001079524.2:c.*4162_*4173dup, NM_001079524.2:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, XM_047449527.1:c.*4165_*4173del, XM_047449527.1:c.*4169_*4173del, XM_047449527.1:c.*4170_*4173del, XM_047449527.1:c.*4171_*4173del, XM_047449527.1:c.*4172_*4173del, XM_047449527.1:c.*4173del, XM_047449527.1:c.*4173dup, XM_047449527.1:c.*4172_*4173dup, XM_047449527.1:c.*4171_*4173dup, XM_047449527.1:c.*4170_*4173dup, XM_047449527.1:c.*4167_*4173dup, XM_047449527.1:c.*4162_*4173dup, XM_047449527.1:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, XM_047449530.1:c.*4165_*4173del, XM_047449530.1:c.*4169_*4173del, XM_047449530.1:c.*4170_*4173del, XM_047449530.1:c.*4171_*4173del, XM_047449530.1:c.*4172_*4173del, XM_047449530.1:c.*4173del, XM_047449530.1:c.*4173dup, XM_047449530.1:c.*4172_*4173dup, XM_047449530.1:c.*4171_*4173dup, XM_047449530.1:c.*4170_*4173dup, XM_047449530.1:c.*4167_*4173dup, XM_047449530.1:c.*4162_*4173dup, XM_047449530.1:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, XM_047449529.1:c.*4165_*4173del, XM_047449529.1:c.*4169_*4173del, XM_047449529.1:c.*4170_*4173del, XM_047449529.1:c.*4171_*4173del, XM_047449529.1:c.*4172_*4173del, XM_047449529.1:c.*4173del, XM_047449529.1:c.*4173dup, XM_047449529.1:c.*4172_*4173dup, XM_047449529.1:c.*4171_*4173dup, XM_047449529.1:c.*4170_*4173dup, XM_047449529.1:c.*4167_*4173dup, XM_047449529.1:c.*4162_*4173dup, XM_047449529.1:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA

Select item 14915322942.

rs1491532294 has merged into rs1182318888 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 4:56473471 (GRCh38)
4:57339637 (GRCh37)
Canonical SPDI:: NC_000004.12:56473469:AGA:A,NC_000004.12:56473469:AGA:AGAGA
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56473471_56473472del, NC_000004.12:g.56473471_56473472dup, NC_000004.11:g.57339637_57339638del, NC_000004.11:g.57339637_57339638dup, NG_032796.1:g.10876_10877del, NG_032796.1:g.10876_10877dup

Select item 14914957423.

rs1491495742 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:56485400 (GRCh38)
4:57351566 (GRCh37)
Canonical SPDI:: NC_000004.12:56485399:CA:
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.56485400_56485401del, NC_000004.11:g.57351566_57351567del, NG_032796.1:g.22805_22806del

Select item 14914954014.

rs1491495401 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GA,GAAAA [Show Flanks]
Chromosome:: 4:56475561 (GRCh38)
4:57341728 (GRCh37)
Canonical SPDI:: NC_000004.12:56475561::G,NC_000004.12:56475561::GA,NC_000004.12:56475561::GAAAA
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
HGVS:: NC_000004.12:g.56475561_56475562insG, NC_000004.12:g.56475561_56475562insGA, NC_000004.12:g.56475561_56475562insGAAAA, NC_000004.11:g.57341727_57341728insG, NC_000004.11:g.57341727_57341728insGA, NC_000004.11:g.57341727_57341728insGAAAA, NG_032796.1:g.12966_12967insG, NG_032796.1:g.12966_12967insGA, NG_032796.1:g.12966_12967insGAAAA

Select item 14913783825.

rs1491378382 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:56500972 (GRCh38)
4:57367138 (GRCh37)
Canonical SPDI:: NC_000004.12:56500971:TA:
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000162/3 (ALFA)
-=0.000059/8 (GnomAD)
-=0.000087/23 (TOPMED)
HGVS:: NC_000004.12:g.56500972_56500973del, NC_000004.11:g.57367138_57367139del, NG_032796.1:g.38377_38378del

Select item 14913717106.

rs1491371710 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:56475580 (GRCh38)
4:57341746 (GRCh37)
Canonical SPDI:: NC_000004.12:56475578:AGA:A
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.56475580_56475581del, NC_000004.11:g.57341746_57341747del, NG_032796.1:g.12985_12986del

Select item 14913534917.

rs1491353491 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTC [Show Flanks]
Chromosome:: 4:56477302 (GRCh38)
4:57343469 (GRCh37)
Canonical SPDI:: NC_000004.12:56477302::C,NC_000004.12:56477302::CTC
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTC=0./0 (ALFA)
HGVS:: NC_000004.12:g.56477302_56477303insC, NC_000004.12:g.56477302_56477303insCTC, NC_000004.11:g.57343468_57343469insC, NC_000004.11:g.57343468_57343469insCTC, NG_032796.1:g.14707_14708insC, NG_032796.1:g.14707_14708insCTC

Select item 14912806998.

rs1491280699 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AAA [Show Flanks]
Chromosome:: 4:56502513 (GRCh38)
4:57368679 (GRCh37)
Canonical SPDI:: NC_000004.12:56502512:AAA:AA,NC_000004.12:56502512:AAA:AAAAA
Gene:: SRP72 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
AA=0.000037/5 (GnomAD)
HGVS:: NC_000004.12:g.56502515del, NC_000004.12:g.56502514_56502515dup, NC_000004.11:g.57368681del, NC_000004.11:g.57368680_57368681dup, NG_032796.1:g.39920del, NG_032796.1:g.39919_39920dup, NM_006947.4:c.*654del, NM_006947.4:c.*653_*654dup, NM_006947.3:c.*654del, NM_006947.3:c.*653_*654dup, NR_151856.2:n.2803del, NR_151856.2:n.2802_2803dup, NR_151856.1:n.2824del, NR_151856.1:n.2823_2824dup, NM_001267722.2:c.*654del, NM_001267722.2:c.*653_*654dup, NM_001267722.1:c.*654del, NM_001267722.1:c.*653_*654dup

Select item 14912677329.

rs1491267732 has merged into rs201131530 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATAT>-,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATGTTTATATATATATATATATAT [Show Flanks]
Chromosome:: 4:56502469 (GRCh38)
4:57368635 (GRCh37)
Canonical SPDI:: NC_000004.12:56502465:TATATATATATATATAT:TAT,NC_000004.12:56502465:TATATATATATATATAT:TATATATAT,NC_000004.12:56502465:TATATATATATATATAT:TATATATATAT,NC_000004.12:56502465:TATATATATATATATAT:TATATATATATATAT,NC_000004.12:56502465:TATATATATATATATAT:TATATATATATATATATAT,NC_000004.12:56502465:TATATATATATATATAT:TATATATATATATATATATAT,NC_000004.12:56502465:TATATATATATATATAT:TATATATATATATATATATATAT,NC_000004.12:56502465:TATATATATATATATAT:TATATATATATATATATATGTTTATATATATATATATATAT
Gene:: SRP72 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATAT=0./0 (ALFA)
TA=0.055/33 (NorthernSweden)
HGVS:: NC_000004.12:g.56502467AT[1], NC_000004.12:g.56502467AT[4], NC_000004.12:g.56502467AT[5], NC_000004.12:g.56502467AT[7], NC_000004.12:g.56502467AT[9], NC_000004.12:g.56502467AT[10], NC_000004.12:g.56502467AT[11], NC_000004.12:g.56502466_56502482TA[9]TGTTTATATATATATATATATAT[1], NC_000004.11:g.57368633AT[1], NC_000004.11:g.57368633AT[4], NC_000004.11:g.57368633AT[5], NC_000004.11:g.57368633AT[7], NC_000004.11:g.57368633AT[9], NC_000004.11:g.57368633AT[10], NC_000004.11:g.57368633AT[11], NC_000004.11:g.57368632_57368648TA[9]TGTTTATATATATATATATATAT[1], NG_032796.1:g.39872AT[1], NG_032796.1:g.39872AT[4], NG_032796.1:g.39872AT[5], NG_032796.1:g.39872AT[7], NG_032796.1:g.39872AT[9], NG_032796.1:g.39872AT[10], NG_032796.1:g.39872AT[11], NG_032796.1:g.39871_39887TA[9]TGTTTATATATATATATATATAT[1], NM_006947.4:c.*606AT[1], NM_006947.4:c.*606AT[4], NM_006947.4:c.*606AT[5], NM_006947.4:c.*606AT[7], NM_006947.4:c.*606AT[9], NM_006947.4:c.*606AT[10], NM_006947.4:c.*606AT[11], NM_006947.4:c.*605_*621TA[9]TGTTTATATATATATATATATAT[1], NM_006947.3:c.*606AT[1], NM_006947.3:c.*606AT[4], NM_006947.3:c.*606AT[5], NM_006947.3:c.*606AT[7], NM_006947.3:c.*606AT[9], NM_006947.3:c.*606AT[10], NM_006947.3:c.*606AT[11], NM_006947.3:c.*605_*621TA[9]TGTTTATATATATATATATATAT[1], NR_151856.2:n.2755AT[1], NR_151856.2:n.2755AT[4], NR_151856.2:n.2755AT[5], NR_151856.2:n.2755AT[7], NR_151856.2:n.2755AT[9], NR_151856.2:n.2755AT[10], NR_151856.2:n.2755AT[11], NR_151856.2:n.2754_2770TA[9]TGTTTATATATATATATATATAT[1], NR_151856.1:n.2776AT[1], NR_151856.1:n.2776AT[4], NR_151856.1:n.2776AT[5], NR_151856.1:n.2776AT[7], NR_151856.1:n.2776AT[9], NR_151856.1:n.2776AT[10], NR_151856.1:n.2776AT[11], NR_151856.1:n.2775_2791TA[9]TGTTTATATATATATATATATAT[1], NM_001267722.2:c.*606AT[1], NM_001267722.2:c.*606AT[4], NM_001267722.2:c.*606AT[5], NM_001267722.2:c.*606AT[7], NM_001267722.2:c.*606AT[9], NM_001267722.2:c.*606AT[10], NM_001267722.2:c.*606AT[11], NM_001267722.2:c.*605_*621TA[9]TGTTTATATATATATATATATAT[1], NM_001267722.1:c.*606AT[1], NM_001267722.1:c.*606AT[4], NM_001267722.1:c.*606AT[5], NM_001267722.1:c.*606AT[7], NM_001267722.1:c.*606AT[9], NM_001267722.1:c.*606AT[10], NM_001267722.1:c.*606AT[11], NM_001267722.1:c.*605_*621TA[9]TGTTTATATATATATATATATAT[1]

Select item 149125591310.

rs1491255913 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:56483672 (GRCh38)
4:57349839 (GRCh37)
Canonical SPDI:: NC_000004.12:56483672:G:GG
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.56483673dup, NC_000004.11:g.57349839dup, NG_032796.1:g.21078dup

Select item 149120345911.

rs1491203459 has merged into rs1229809474 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:56477310 (GRCh38)
4:57343476 (GRCh37)
Canonical SPDI:: NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:56477301:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.56477310_56477322del, NC_000004.12:g.56477311_56477322del, NC_000004.12:g.56477316_56477322del, NC_000004.12:g.56477318_56477322del, NC_000004.12:g.56477319_56477322del, NC_000004.12:g.56477320_56477322del, NC_000004.12:g.56477321_56477322del, NC_000004.12:g.56477322del, NC_000004.12:g.56477322dup, NC_000004.12:g.56477321_56477322dup, NC_000004.12:g.56477320_56477322dup, NC_000004.12:g.56477319_56477322dup, NC_000004.12:g.56477318_56477322dup, NC_000004.12:g.56477317_56477322dup, NC_000004.12:g.56477316_56477322dup, NC_000004.12:g.56477315_56477322dup, NC_000004.12:g.56477313_56477322dup, NC_000004.12:g.56477311_56477322dup, NC_000004.12:g.56477310_56477322dup, NC_000004.12:g.56477309_56477322dup, NC_000004.12:g.56477308_56477322dup, NC_000004.12:g.56477307_56477322dup, NC_000004.12:g.56477306_56477322dup, NC_000004.12:g.56477305_56477322dup, NC_000004.11:g.57343476_57343488del, NC_000004.11:g.57343477_57343488del, NC_000004.11:g.57343482_57343488del, NC_000004.11:g.57343484_57343488del, NC_000004.11:g.57343485_57343488del, NC_000004.11:g.57343486_57343488del, NC_000004.11:g.57343487_57343488del, NC_000004.11:g.57343488del, NC_000004.11:g.57343488dup, NC_000004.11:g.57343487_57343488dup, NC_000004.11:g.57343486_57343488dup, NC_000004.11:g.57343485_57343488dup, NC_000004.11:g.57343484_57343488dup, NC_000004.11:g.57343483_57343488dup, NC_000004.11:g.57343482_57343488dup, NC_000004.11:g.57343481_57343488dup, NC_000004.11:g.57343479_57343488dup, NC_000004.11:g.57343477_57343488dup, NC_000004.11:g.57343476_57343488dup, NC_000004.11:g.57343475_57343488dup, NC_000004.11:g.57343474_57343488dup, NC_000004.11:g.57343473_57343488dup, NC_000004.11:g.57343472_57343488dup, NC_000004.11:g.57343471_57343488dup, NG_032796.1:g.14715_14727del, NG_032796.1:g.14716_14727del, NG_032796.1:g.14721_14727del, NG_032796.1:g.14723_14727del, NG_032796.1:g.14724_14727del, NG_032796.1:g.14725_14727del, NG_032796.1:g.14726_14727del, NG_032796.1:g.14727del, NG_032796.1:g.14727dup, NG_032796.1:g.14726_14727dup, NG_032796.1:g.14725_14727dup, NG_032796.1:g.14724_14727dup, NG_032796.1:g.14723_14727dup, NG_032796.1:g.14722_14727dup, NG_032796.1:g.14721_14727dup, NG_032796.1:g.14720_14727dup, NG_032796.1:g.14718_14727dup, NG_032796.1:g.14716_14727dup, NG_032796.1:g.14715_14727dup, NG_032796.1:g.14714_14727dup, NG_032796.1:g.14713_14727dup, NG_032796.1:g.14712_14727dup, NG_032796.1:g.14711_14727dup, NG_032796.1:g.14710_14727dup

Select item 149114719112.

rs1491147191 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:56483673 (GRCh38)
4:57349839 (GRCh37)
Canonical SPDI:: NC_000004.12:56483671:AGA:A
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.56483673_56483674del, NC_000004.11:g.57349839_57349840del, NG_032796.1:g.21078_21079del

Select item 149101270513.

rs1491012705 has merged into rs11359661 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:56463703 (GRCh38)
4:57329869 (GRCh37)
Canonical SPDI:: NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56463694:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PAICS (Varview), LOC124900706 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.2606/1305 (1000Genomes)
HGVS:: NC_000004.12:g.56463703_56463711del, NC_000004.12:g.56463707_56463711del, NC_000004.12:g.56463708_56463711del, NC_000004.12:g.56463709_56463711del, NC_000004.12:g.56463710_56463711del, NC_000004.12:g.56463711del, NC_000004.12:g.56463711dup, NC_000004.12:g.56463710_56463711dup, NC_000004.12:g.56463709_56463711dup, NC_000004.12:g.56463708_56463711dup, NC_000004.12:g.56463705_56463711dup, NC_000004.12:g.56463700_56463711dup, NC_000004.12:g.56463711_56463712insAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.57329869_57329877del, NC_000004.11:g.57329873_57329877del, NC_000004.11:g.57329874_57329877del, NC_000004.11:g.57329875_57329877del, NC_000004.11:g.57329876_57329877del, NC_000004.11:g.57329877del, NC_000004.11:g.57329877dup, NC_000004.11:g.57329876_57329877dup, NC_000004.11:g.57329875_57329877dup, NC_000004.11:g.57329874_57329877dup, NC_000004.11:g.57329871_57329877dup, NC_000004.11:g.57329866_57329877dup, NC_000004.11:g.57329877_57329878insAAAAAAAAAAAAAAAAAAAA, NG_032796.1:g.1108_1116del, NG_032796.1:g.1112_1116del, NG_032796.1:g.1113_1116del, NG_032796.1:g.1114_1116del, NG_032796.1:g.1115_1116del, NG_032796.1:g.1116del, NG_032796.1:g.1116dup, NG_032796.1:g.1115_1116dup, NG_032796.1:g.1114_1116dup, NG_032796.1:g.1113_1116dup, NG_032796.1:g.1110_1116dup, NG_032796.1:g.1105_1116dup, NG_032796.1:g.1116_1117insAAAAAAAAAAAAAAAAAAAA, NM_006452.4:c.*4165_*4173del, NM_006452.4:c.*4169_*4173del, NM_006452.4:c.*4170_*4173del, NM_006452.4:c.*4171_*4173del, NM_006452.4:c.*4172_*4173del, NM_006452.4:c.*4173del, NM_006452.4:c.*4173dup, NM_006452.4:c.*4172_*4173dup, NM_006452.4:c.*4171_*4173dup, NM_006452.4:c.*4170_*4173dup, NM_006452.4:c.*4167_*4173dup, NM_006452.4:c.*4162_*4173dup, NM_006452.4:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, NM_001079525.2:c.*4165_*4173del, NM_001079525.2:c.*4169_*4173del, NM_001079525.2:c.*4170_*4173del, NM_001079525.2:c.*4171_*4173del, NM_001079525.2:c.*4172_*4173del, NM_001079525.2:c.*4173del, NM_001079525.2:c.*4173dup, NM_001079525.2:c.*4172_*4173dup, NM_001079525.2:c.*4171_*4173dup, NM_001079525.2:c.*4170_*4173dup, NM_001079525.2:c.*4167_*4173dup, NM_001079525.2:c.*4162_*4173dup, NM_001079525.2:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, NM_001079524.2:c.*4165_*4173del, NM_001079524.2:c.*4169_*4173del, NM_001079524.2:c.*4170_*4173del, NM_001079524.2:c.*4171_*4173del, NM_001079524.2:c.*4172_*4173del, NM_001079524.2:c.*4173del, NM_001079524.2:c.*4173dup, NM_001079524.2:c.*4172_*4173dup, NM_001079524.2:c.*4171_*4173dup, NM_001079524.2:c.*4170_*4173dup, NM_001079524.2:c.*4167_*4173dup, NM_001079524.2:c.*4162_*4173dup, NM_001079524.2:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, XM_047449527.1:c.*4165_*4173del, XM_047449527.1:c.*4169_*4173del, XM_047449527.1:c.*4170_*4173del, XM_047449527.1:c.*4171_*4173del, XM_047449527.1:c.*4172_*4173del, XM_047449527.1:c.*4173del, XM_047449527.1:c.*4173dup, XM_047449527.1:c.*4172_*4173dup, XM_047449527.1:c.*4171_*4173dup, XM_047449527.1:c.*4170_*4173dup, XM_047449527.1:c.*4167_*4173dup, XM_047449527.1:c.*4162_*4173dup, XM_047449527.1:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, XM_047449530.1:c.*4165_*4173del, XM_047449530.1:c.*4169_*4173del, XM_047449530.1:c.*4170_*4173del, XM_047449530.1:c.*4171_*4173del, XM_047449530.1:c.*4172_*4173del, XM_047449530.1:c.*4173del, XM_047449530.1:c.*4173dup, XM_047449530.1:c.*4172_*4173dup, XM_047449530.1:c.*4171_*4173dup, XM_047449530.1:c.*4170_*4173dup, XM_047449530.1:c.*4167_*4173dup, XM_047449530.1:c.*4162_*4173dup, XM_047449530.1:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA, XM_047449529.1:c.*4165_*4173del, XM_047449529.1:c.*4169_*4173del, XM_047449529.1:c.*4170_*4173del, XM_047449529.1:c.*4171_*4173del, XM_047449529.1:c.*4172_*4173del, XM_047449529.1:c.*4173del, XM_047449529.1:c.*4173dup, XM_047449529.1:c.*4172_*4173dup, XM_047449529.1:c.*4171_*4173dup, XM_047449529.1:c.*4170_*4173dup, XM_047449529.1:c.*4167_*4173dup, XM_047449529.1:c.*4162_*4173dup, XM_047449529.1:c.*4173_*4174insAAAAAAAAAAAAAAAAAAAA

Select item 149100223914.

rs1491002239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:56472956 (GRCh38)
4:57339122 (GRCh37)
Canonical SPDI:: NC_000004.12:56472955:C:T
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.56472956C>T, NC_000004.11:g.57339122C>T, NG_032796.1:g.10361C>T

Select item 149098614515.

rs1490986145 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:56469296 (GRCh38)
4:57335462 (GRCh37)
Canonical SPDI:: NC_000004.12:56469295:T:A
Gene:: SRP72 (Varview), LOC124900706 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.56469296T>A, NC_000004.11:g.57335462T>A, NG_032796.1:g.6701T>A

Select item 149097679416.

rs1490976794 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:56467360 (GRCh38)
4:57333526 (GRCh37)
Canonical SPDI:: NC_000004.12:56467359:T:G
Gene:: SRP72 (Varview), LOC124900706 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.56467360T>G, NC_000004.11:g.57333526T>G, NG_032796.1:g.4765T>G, XR_007058126.1:n.199A>C

Select item 149093208617.

rs1490932086 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:56501432 (GRCh38)
4:57367598 (GRCh37)
Canonical SPDI:: NC_000004.12:56501431:A:G
Gene:: SRP72 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.56501432A>G, NC_000004.11:g.57367598A>G, NG_032796.1:g.38837A>G

Select item 149092212118.

rs1490922121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:56503391 (GRCh38)
4:57369557 (GRCh37)
Canonical SPDI:: NC_000004.12:56503390:G:A
Gene:: SRP72 (Varview), ARL9 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
HGVS:: NC_000004.12:g.56503391G>A, NC_000004.11:g.57369557G>A, NG_032796.1:g.40796G>A, NM_006947.4:c.*1530G>A, NM_006947.3:c.*1530G>A, NR_151856.2:n.3679G>A, NR_151856.1:n.3700G>A, NM_001267722.2:c.*1530G>A, NM_001267722.1:c.*1530G>A

Select item 149074574819.

rs1490745748 has merged into rs55823305 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:56466490 (GRCh38)
4:57332656 (GRCh37)
Canonical SPDI:: NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:56466480:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SRP72 (Varview), LOC124900706 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.56466490_56466509del, NC_000004.12:g.56466492_56466509del, NC_000004.12:g.56466493_56466509del, NC_000004.12:g.56466494_56466509del, NC_000004.12:g.56466495_56466509del, NC_000004.12:g.56466496_56466509del, NC_000004.12:g.56466497_56466509del, NC_000004.12:g.56466498_56466509del, NC_000004.12:g.56466499_56466509del, NC_000004.12:g.56466500_56466509del, NC_000004.12:g.56466501_56466509del, NC_000004.12:g.56466502_56466509del, NC_000004.12:g.56466503_56466509del, NC_000004.12:g.56466504_56466509del, NC_000004.12:g.56466505_56466509del, NC_000004.12:g.56466506_56466509del, NC_000004.12:g.56466507_56466509del, NC_000004.12:g.56466508_56466509del, NC_000004.12:g.56466509del, NC_000004.12:g.56466509dup, NC_000004.12:g.56466508_56466509dup, NC_000004.12:g.56466507_56466509dup, NC_000004.12:g.56466506_56466509dup, NC_000004.12:g.56466505_56466509dup, NC_000004.12:g.56466504_56466509dup, NC_000004.12:g.56466503_56466509dup, NC_000004.12:g.56466502_56466509dup, NC_000004.12:g.56466501_56466509dup, NC_000004.12:g.56466500_56466509dup, NC_000004.12:g.56466495_56466509dup, NC_000004.12:g.56466493_56466509dup, NC_000004.12:g.56466509_56466510insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.57332656_57332675del, NC_000004.11:g.57332658_57332675del, NC_000004.11:g.57332659_57332675del, NC_000004.11:g.57332660_57332675del, NC_000004.11:g.57332661_57332675del, NC_000004.11:g.57332662_57332675del, NC_000004.11:g.57332663_57332675del, NC_000004.11:g.57332664_57332675del, NC_000004.11:g.57332665_57332675del, NC_000004.11:g.57332666_57332675del, NC_000004.11:g.57332667_57332675del, NC_000004.11:g.57332668_57332675del, NC_000004.11:g.57332669_57332675del, NC_000004.11:g.57332670_57332675del, NC_000004.11:g.57332671_57332675del, NC_000004.11:g.57332672_57332675del, NC_000004.11:g.57332673_57332675del, NC_000004.11:g.57332674_57332675del, NC_000004.11:g.57332675del, NC_000004.11:g.57332675dup, NC_000004.11:g.57332674_57332675dup, NC_000004.11:g.57332673_57332675dup, NC_000004.11:g.57332672_57332675dup, NC_000004.11:g.57332671_57332675dup, NC_000004.11:g.57332670_57332675dup, NC_000004.11:g.57332669_57332675dup, NC_000004.11:g.57332668_57332675dup, NC_000004.11:g.57332667_57332675dup, NC_000004.11:g.57332666_57332675dup, NC_000004.11:g.57332661_57332675dup, NC_000004.11:g.57332659_57332675dup, NC_000004.11:g.57332675_57332676insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032796.1:g.3895_3914del, NG_032796.1:g.3897_3914del, NG_032796.1:g.3898_3914del, NG_032796.1:g.3899_3914del, NG_032796.1:g.3900_3914del, NG_032796.1:g.3901_3914del, NG_032796.1:g.3902_3914del, NG_032796.1:g.3903_3914del, NG_032796.1:g.3904_3914del, NG_032796.1:g.3905_3914del, NG_032796.1:g.3906_3914del, NG_032796.1:g.3907_3914del, NG_032796.1:g.3908_3914del, NG_032796.1:g.3909_3914del, NG_032796.1:g.3910_3914del, NG_032796.1:g.3911_3914del, NG_032796.1:g.3912_3914del, NG_032796.1:g.3913_3914del, NG_032796.1:g.3914del, NG_032796.1:g.3914dup, NG_032796.1:g.3913_3914dup, NG_032796.1:g.3912_3914dup, NG_032796.1:g.3911_3914dup, NG_032796.1:g.3910_3914dup, NG_032796.1:g.3909_3914dup, NG_032796.1:g.3908_3914dup, NG_032796.1:g.3907_3914dup, NG_032796.1:g.3906_3914dup, NG_032796.1:g.3905_3914dup, NG_032796.1:g.3900_3914dup, NG_032796.1:g.3898_3914dup, NG_032796.1:g.3914_3915insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149068964020.

rs1490689640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:56465533 (GRCh38)
4:57331699 (GRCh37)
Canonical SPDI:: NC_000004.12:56465532:C:T
Gene:: LOC124900706 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.56465533C>T, NC_000004.11:g.57331699C>T, NG_032796.1:g.2938C>T

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