SNP Links for Gene (Select 25791) - SNP

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Select item 14915787141.

rs1491578714 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:232995495 (GRCh38)
2:233860205 (GRCh37)
Canonical SPDI:: NC_000002.12:232995494:TG:
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.232995495_232995496del, NC_000002.11:g.233860205_233860206del

Select item 14915760342.

rs1491576034 has merged into rs397988249 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:232932173 (GRCh38)
2:233796883 (GRCh37)
Canonical SPDI:: NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232932163:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.232932173_232932182del, NC_000002.12:g.232932174_232932182del, NC_000002.12:g.232932175_232932182del, NC_000002.12:g.232932176_232932182del, NC_000002.12:g.232932177_232932182del, NC_000002.12:g.232932178_232932182del, NC_000002.12:g.232932179_232932182del, NC_000002.12:g.232932180_232932182del, NC_000002.12:g.232932181_232932182del, NC_000002.12:g.232932182del, NC_000002.12:g.232932182dup, NC_000002.12:g.232932181_232932182dup, NC_000002.12:g.232932180_232932182dup, NC_000002.12:g.232932179_232932182dup, NC_000002.12:g.232932178_232932182dup, NC_000002.12:g.232932177_232932182dup, NC_000002.12:g.232932176_232932182dup, NC_000002.12:g.232932175_232932182dup, NC_000002.12:g.232932174_232932182dup, NC_000002.12:g.232932173_232932182dup, NC_000002.12:g.232932172_232932182dup, NC_000002.12:g.232932169_232932182dup, NC_000002.12:g.232932167_232932182dup, NC_000002.12:g.232932164_232932182dup, NC_000002.12:g.232932182_232932183insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.232932182_232932183insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.232932182_232932183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.232932182_232932183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.232932182_232932183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.232932182_232932183insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.233796883_233796892del, NC_000002.11:g.233796884_233796892del, NC_000002.11:g.233796885_233796892del, NC_000002.11:g.233796886_233796892del, NC_000002.11:g.233796887_233796892del, NC_000002.11:g.233796888_233796892del, NC_000002.11:g.233796889_233796892del, NC_000002.11:g.233796890_233796892del, NC_000002.11:g.233796891_233796892del, NC_000002.11:g.233796892del, NC_000002.11:g.233796892dup, NC_000002.11:g.233796891_233796892dup, NC_000002.11:g.233796890_233796892dup, NC_000002.11:g.233796889_233796892dup, NC_000002.11:g.233796888_233796892dup, NC_000002.11:g.233796887_233796892dup, NC_000002.11:g.233796886_233796892dup, NC_000002.11:g.233796885_233796892dup, NC_000002.11:g.233796884_233796892dup, NC_000002.11:g.233796883_233796892dup, NC_000002.11:g.233796882_233796892dup, NC_000002.11:g.233796879_233796892dup, NC_000002.11:g.233796877_233796892dup, NC_000002.11:g.233796874_233796892dup, NC_000002.11:g.233796892_233796893insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.233796892_233796893insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.233796892_233796893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.233796892_233796893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.233796892_233796893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.233796892_233796893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915602103.

rs1491560210 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATATAAATAAATATATAT,TATATATATAAATAAATATATAT [Show Flanks]
Chromosome:: 2:232993197 (GRCh38)
2:233857908 (GRCh37)
Canonical SPDI:: NC_000002.12:232993197:ATATATAT:ATATATATCATATATATAAATAAATATATAT,NC_000002.12:232993197:ATATATAT:ATATATATTATATATATAAATAAATATATAT
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: ATATATATCATATATATAAATAA=0.000036/1 (TOMMO)
ATATATATTATATATATAAATAA=0.000113/14 (GnomAD)
HGVS:: NC_000002.12:g.232993198_232993205AT[4]CATATATATAAATAAATATATAT[1], NC_000002.12:g.232993198_232993205AT[4]TA[5]AATA[2]TA[2]T[1], NC_000002.11:g.233857908_233857915AT[4]CATATATATAAATAAATATATAT[1], NC_000002.11:g.233857908_233857915AT[4]TA[5]AATA[2]TA[2]T[1]

Select item 14915567184.

rs1491556718 has merged into rs373562012 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA,TATATATA [Show Flanks]
Chromosome:: 2:232995555 (GRCh38)
2:233860265 (GRCh37)
Canonical SPDI:: NC_000002.12:232995550:TATATA:TATA,NC_000002.12:232995550:TATATA:TATATATA,NC_000002.12:232995550:TATATA:TATATATATA,NC_000002.12:232995550:TATATA:TATATATATATA
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATA=0./0 (ALFA)
TATA=0.0004/3 (GnomAD)
HGVS:: NC_000002.12:g.232995551TA[2], NC_000002.12:g.232995551TA[4], NC_000002.12:g.232995551TA[5], NC_000002.12:g.232995551TA[6], NC_000002.11:g.233860261TA[2], NC_000002.11:g.233860261TA[4], NC_000002.11:g.233860261TA[5], NC_000002.11:g.233860261TA[6]

Select item 14915407625.

rs1491540762 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 2:232897968 (GRCh38)
2:233762678 (GRCh37)
Canonical SPDI:: NC_000002.12:232897966:GGG:G
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00322/54 (TOMMO)
HGVS:: NC_000002.12:g.232897968_232897969del, NC_000002.11:g.233762678_233762679del

Select item 14915231176.

rs1491523117 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:232900181 (GRCh38)
2:233764891 (GRCh37)
Canonical SPDI:: NC_000002.12:232900180:TT:
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000002.12:g.232900181_232900182del, NC_000002.11:g.233764891_233764892del

Select item 14914992057.

rs1491499205 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:232900423 (GRCh38)
2:233765133 (GRCh37)
Canonical SPDI:: NC_000002.12:232900422:TA:
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.0001/2 (TOMMO)
HGVS:: NC_000002.12:g.232900423_232900424del, NC_000002.11:g.233765133_233765134del

Select item 14914952848.

rs1491495284 has merged into rs11404293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:232954740 (GRCh38)
2:233819450 (GRCh37)
Canonical SPDI:: NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:232954729:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.3059/1532 (1000Genomes)
HGVS:: NC_000002.12:g.232954740_232954743del, NC_000002.12:g.232954741_232954743del, NC_000002.12:g.232954742_232954743del, NC_000002.12:g.232954743del, NC_000002.12:g.232954743dup, NC_000002.12:g.232954742_232954743dup, NC_000002.12:g.232954741_232954743dup, NC_000002.12:g.232954734_232954743dup, NC_000002.11:g.233819450_233819453del, NC_000002.11:g.233819451_233819453del, NC_000002.11:g.233819452_233819453del, NC_000002.11:g.233819453del, NC_000002.11:g.233819453dup, NC_000002.11:g.233819452_233819453dup, NC_000002.11:g.233819451_233819453dup, NC_000002.11:g.233819444_233819453dup

Select item 14914887979.

rs1491488797 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:232883052 (GRCh38)
2:233747762 (GRCh37)
Canonical SPDI:: NC_000002.12:232883051:AA:
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.232883052_232883053del, NC_000002.11:g.233747762_233747763del

Select item 149148454710.

rs1491484547 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:232956781 (GRCh38)
2:233821491 (GRCh37)
Canonical SPDI:: NC_000002.12:232956780:TA:
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.232956781_232956782del, NC_000002.11:g.233821491_233821492del

Select item 149146009811.

rs1491460098 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:232939175 (GRCh38)
2:233803885 (GRCh37)
Canonical SPDI:: NC_000002.12:232939174:CA:
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00126/15 (ALFA)
-=0.00121/34 (TOMMO)
HGVS:: NC_000002.12:g.232939175_232939176del, NC_000002.11:g.233803885_233803886del

Select item 149145000212.

rs1491450002 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACA [Show Flanks]
Chromosome:: 2:232995151 (GRCh38)
2:233859862 (GRCh37)
Canonical SPDI:: NC_000002.12:232995151:ACA:ACACACA
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000002.12:g.232995153CA[3], NC_000002.11:g.233859863CA[3]

Select item 149143252613.

rs1491432526 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAC [Show Flanks]
Chromosome:: 2:232899893 (GRCh38)
2:233764604 (GRCh37)
Canonical SPDI:: NC_000002.12:232899893:AC:ACTTAC
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACTTAC=0.009189/109 (ALFA)
ACTT=0.00036/46 (GnomAD)
HGVS:: NC_000002.12:g.232899895_232899896insTTAC, NC_000002.11:g.233764605_233764606insTTAC

Select item 149142512314.

rs1491425123 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:232900613 (GRCh38)
2:233765323 (GRCh37)
Canonical SPDI:: NC_000002.12:232900611:ATA:A
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
-=0.00034/21 (GnomAD)
HGVS:: NC_000002.12:g.232900613_232900614del, NC_000002.11:g.233765323_233765324del

Select item 149141181815.

rs1491411818 has merged into rs1178315849 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CACACA [Show Flanks]
Chromosome:: 2:232899565 (GRCh38)
2:233764275 (GRCh37)
Canonical SPDI:: NC_000002.12:232899561:ACACACA:ACA,NC_000002.12:232899561:ACACACA:ACACACACA
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACA=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000002.12:g.232899563CA[1], NC_000002.12:g.232899563CA[4], NC_000002.11:g.233764273CA[1], NC_000002.11:g.233764273CA[4]

Select item 149140207916.

rs1491402079 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:232934241 (GRCh38)
2:233798951 (GRCh37)
Canonical SPDI:: NC_000002.12:232934240:CA:
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00843/100 (ALFA)
-=0.0015/45 (GnomAD)
HGVS:: NC_000002.12:g.232934241_232934242del, NC_000002.11:g.233798951_233798952del

Select item 149139875217.

rs1491398752 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:232994369 (GRCh38)
2:233859079 (GRCh37)
Canonical SPDI:: NC_000002.12:232994368:CA:
Gene:: NGEF (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0043/51 (ALFA)
HGVS:: NC_000002.12:g.232994369_232994370del, NC_000002.11:g.233859079_233859080del

Select item 149139446118.

rs1491394461 has merged into rs1483640964 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACACA [Show Flanks]
Chromosome:: 2:232899897 (GRCh38)
2:233764607 (GRCh37)
Canonical SPDI:: NC_000002.12:232899892:CACACACA:CACA,NC_000002.12:232899892:CACACACA:CACACA,NC_000002.12:232899892:CACACACA:CACACACACA,NC_000002.12:232899892:CACACACA:CACACACACACACA
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0./0 (ALFA)
CA=0.00055/1 (Korea1K)
CA=0.00078/13 (TOMMO)
CA=0.00333/2 (NorthernSweden)
HGVS:: NC_000002.12:g.232899893CA[2], NC_000002.12:g.232899893CA[3], NC_000002.12:g.232899893CA[5], NC_000002.12:g.232899893CA[7], NC_000002.11:g.233764603CA[2], NC_000002.11:g.233764603CA[3], NC_000002.11:g.233764603CA[5], NC_000002.11:g.233764603CA[7]

Select item 149138316219.

rs1491383162 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:232900895 (GRCh38)
2:233765606 (GRCh37)
Canonical SPDI:: NC_000002.12:232900895:T:TT
Gene:: NGEF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000002.12:g.232900896dup, NC_000002.11:g.233765606dup

Select item 149138216920.

rs1491382169 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 2:232879421 (GRCh38)
2:233744132 (GRCh37)
Canonical SPDI:: NC_000002.12:232879421::A,NC_000002.12:232879421::G,NC_000002.12:232879421::T
Gene:: NGEF (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00062/3 (GnomAD)
A=0.00195/33 (TOMMO)
HGVS:: NC_000002.12:g.232879421_232879422insA, NC_000002.12:g.232879421_232879422insG, NC_000002.12:g.232879421_232879422insT, NC_000002.11:g.233744131_233744132insA, NC_000002.11:g.233744131_233744132insG, NC_000002.11:g.233744131_233744132insT, XM_011510923.4:c.*67_*68insT, XM_011510923.4:c.*67_*68insC, XM_011510923.4:c.*67_*68insA, XM_011510923.3:c.*67_*68insT, XM_011510923.3:c.*67_*68insC, XM_011510923.3:c.*67_*68insA, XM_011510923.2:c.*67_*68insT, XM_011510923.2:c.*67_*68insC, XM_011510923.2:c.*67_*68insA, XM_011510923.1:c.*67_*68insT, XM_011510923.1:c.*67_*68insC, XM_011510923.1:c.*67_*68insA, NM_019850.3:c.*67_*68insT, NM_019850.3:c.*67_*68insC, NM_019850.3:c.*67_*68insA, NM_019850.2:c.*67_*68insT, NM_019850.2:c.*67_*68insC, NM_019850.2:c.*67_*68insA, NM_001114090.2:c.*67_*68insT, NM_001114090.2:c.*67_*68insC, NM_001114090.2:c.*67_*68insA, NM_001114090.1:c.*67_*68insT, NM_001114090.1:c.*67_*68insC, NM_001114090.1:c.*67_*68insA, XM_011510925.2:c.*67_*68insT, XM_011510925.2:c.*67_*68insC, XM_011510925.2:c.*67_*68insA, XM_011510925.1:c.*67_*68insT, XM_011510925.1:c.*67_*68insC, XM_011510925.1:c.*67_*68insA, XM_011510924.2:c.*67_*68insT, XM_011510924.2:c.*67_*68insC, XM_011510924.2:c.*67_*68insA, XM_011510924.1:c.*67_*68insT, XM_011510924.1:c.*67_*68insC, XM_011510924.1:c.*67_*68insA, XM_047443880.1:c.*67_*68insT, XM_047443880.1:c.*67_*68insC, XM_047443880.1:c.*67_*68insA

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