SNP Links for Nucleotide (Select 568815517) - SNP

Links from Nucleotide

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Select item 14915841521.

rs1491584152 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:1076738 (GRCh38)
17:979978 (GRCh37)
Canonical SPDI:: NC_000017.11:1076736:GTG:G
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000952/120 (GnomAD)
-=0.000999/16 (TOMMO)
-=0.004372/28 (1000Genomes)
HGVS:: NC_000017.11:g.1076738_1076739del, NC_000017.10:g.979978_979979del, NG_011987.2:g.157943_157944del, NT_187613.1:g.120285_120286del, NT_187664.1:g.116755_116756del

Select item 14915767892.

rs1491576789 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CGC,CTCCCCTCCCTCCC [Show Flanks]
Chromosome:: 17:1031902 (GRCh38)
17:935143 (GRCh37)
Canonical SPDI:: NC_000017.11:1031902::C,NC_000017.11:1031902::CGC,NC_000017.11:1031902::CTCCCCTCCCTCCC
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00018/3 (ALFA)
CTCCCCTCCCTCCC=0.00001/1 (GnomAD)
C=0.00047/12 (TOMMO)
HGVS:: NC_000017.11:g.1031902_1031903insC, NC_000017.11:g.1031902_1031903insCGC, NC_000017.11:g.1031902_1031903insCTCCCCTCCCTCCC, NC_000017.10:g.935142_935143insC, NC_000017.10:g.935142_935143insCGC, NC_000017.10:g.935142_935143insCTCCCCTCCCTCCC, NG_011987.2:g.202778_202779insG, NG_011987.2:g.202778_202779insGCG, NG_011987.2:g.202778_202779insGGGAGGGAGGGGAG, NT_187613.1:g.71149_71150insC, NT_187613.1:g.71149_71150insCGC, NT_187613.1:g.71149_71150insCTCCCCTCCCTCCC, NT_187664.1:g.71149_71150insC, NT_187664.1:g.71149_71150insCGC, NT_187664.1:g.71149_71150insCTCCCCTCCCTCCC

Select item 14915316533.

rs1491531653 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:963209 (GRCh38)
17:866449 (GRCh37)
Canonical SPDI:: NC_000017.11:963207:GGG:G
Gene:: NXN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000857/14 (ALFA)
-=0.003126/14 (Estonian)
-=0.021446/2472 (GnomAD)
-=0.085572/548 (1000Genomes)
-=0.252201/4191 (TOMMO)
HGVS:: NC_000017.11:g.963209_963210del, NC_000017.10:g.866449_866450del, NT_187613.1:g.2456_2457del, NT_187664.1:g.2456_2457del

Select item 14914880154.

rs1491488015 [Homo sapiens]

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

Select item 14914482155.

rs1491448215 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:1000329 (GRCh38)
17:903569 (GRCh37)
Canonical SPDI:: NC_000017.11:1000328:CA:
Gene:: TIMM22 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00023/9 (GnomAD)
HGVS:: NC_000017.11:g.1000329_1000330del, NC_000017.10:g.903569_903570del, NT_187613.1:g.39576_39577del, NT_187664.1:g.39576_39577del

Select item 14914314926.

rs1491431492 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAAAA [Show Flanks]
Chromosome:: 17:1022107 (GRCh38)
17:925348 (GRCh37)
Canonical SPDI:: NC_000017.11:1022107:AAAAAAAAAA:AAAAAAAAAACAAAAAAAAAA
Gene:: ABR (Varview), MIR3183 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAACAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1022108_1022117A[10]CAAAAAAAAAA[1], NC_000017.10:g.925348_925357A[10]CAAAAAAAAAA[1], NG_011987.2:g.212564_212573T[10]GTTTTTTTTTT[1], NT_187613.1:g.61355_61364A[10]CAAAAAAAAAA[1], NT_187664.1:g.61355_61364A[10]CAAAAAAAAAA[1]

Select item 14914250787.

rs1491425078 has merged into rs373981581 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC [Show Flanks]
Chromosome:: 17:1035347 (GRCh38)
17:938587 (GRCh37)
Canonical SPDI:: NC_000017.11:1035341:CCCCCCC:CCCCC,NC_000017.11:1035341:CCCCCCC:CCCCCC,NC_000017.11:1035341:CCCCCCC:CCCCCCCC
Gene:: ABR (Varview), LOC124903895 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
C=0.00064/43 (GnomAD)
HGVS:: NC_000017.11:g.1035347_1035348del, NC_000017.11:g.1035348del, NC_000017.11:g.1035348dup, NC_000017.10:g.938587_938588del, NC_000017.10:g.938588del, NC_000017.10:g.938588dup, NG_011987.2:g.199338_199339del, NG_011987.2:g.199339del, NG_011987.2:g.199339dup, NT_187613.1:g.74594_74595del, NT_187613.1:g.74595del, NT_187613.1:g.74595dup, NT_187664.1:g.74594_74595del, NT_187664.1:g.74595del, NT_187664.1:g.74595dup

Select item 14914205108.

rs1491420510 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:1076737 (GRCh38)
17:979978 (GRCh37)
Canonical SPDI:: NC_000017.11:1076737::A
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000429/7 (ALFA)
A=0.000416/51 (GnomAD)
HGVS:: NC_000017.11:g.1076737_1076738insA, NC_000017.10:g.979977_979978insA, NG_011987.2:g.157943_157944insT, NT_187613.1:g.120284_120285insA, NT_187664.1:g.116754_116755insA

Select item 14914021629.

rs1491402162 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:1083123 (GRCh38)
17:986363 (GRCh37)
Canonical SPDI:: NC_000017.11:1083122:CA:
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00024/4 (TOMMO)
HGVS:: NC_000017.11:g.1083123_1083124del, NC_000017.10:g.986363_986364del, NG_011987.2:g.151557_151558del, NT_187613.1:g.126670_126671del, NT_187664.1:g.123140_123141del

Select item 149139894810.

rs1491398948 has merged into rs59004026 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:1100137 (GRCh38)
17:1003377 (GRCh37)
Canonical SPDI:: NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:1100126:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ABR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.1100137_1100149del, NC_000017.11:g.1100138_1100149del, NC_000017.11:g.1100139_1100149del, NC_000017.11:g.1100140_1100149del, NC_000017.11:g.1100141_1100149del, NC_000017.11:g.1100142_1100149del, NC_000017.11:g.1100143_1100149del, NC_000017.11:g.1100144_1100149del, NC_000017.11:g.1100145_1100149del, NC_000017.11:g.1100146_1100149del, NC_000017.11:g.1100147_1100149del, NC_000017.11:g.1100148_1100149del, NC_000017.11:g.1100149del, NC_000017.11:g.1100149dup, NC_000017.11:g.1100148_1100149dup, NC_000017.11:g.1100147_1100149dup, NC_000017.10:g.1003377_1003389del, NC_000017.10:g.1003378_1003389del, NC_000017.10:g.1003379_1003389del, NC_000017.10:g.1003380_1003389del, NC_000017.10:g.1003381_1003389del, NC_000017.10:g.1003382_1003389del, NC_000017.10:g.1003383_1003389del, NC_000017.10:g.1003384_1003389del, NC_000017.10:g.1003385_1003389del, NC_000017.10:g.1003386_1003389del, NC_000017.10:g.1003387_1003389del, NC_000017.10:g.1003388_1003389del, NC_000017.10:g.1003389del, NC_000017.10:g.1003389dup, NC_000017.10:g.1003388_1003389dup, NC_000017.10:g.1003387_1003389dup, NG_011987.2:g.134542_134554del, NG_011987.2:g.134543_134554del, NG_011987.2:g.134544_134554del, NG_011987.2:g.134545_134554del, NG_011987.2:g.134546_134554del, NG_011987.2:g.134547_134554del, NG_011987.2:g.134548_134554del, NG_011987.2:g.134549_134554del, NG_011987.2:g.134550_134554del, NG_011987.2:g.134551_134554del, NG_011987.2:g.134552_134554del, NG_011987.2:g.134553_134554del, NG_011987.2:g.134554del, NG_011987.2:g.134554dup, NG_011987.2:g.134553_134554dup, NG_011987.2:g.134552_134554dup, NT_187613.1:g.143684_143696del, NT_187613.1:g.143685_143696del, NT_187613.1:g.143686_143696del, NT_187613.1:g.143687_143696del, NT_187613.1:g.143688_143696del, NT_187613.1:g.143689_143696del, NT_187613.1:g.143690_143696del, NT_187613.1:g.143691_143696del, NT_187613.1:g.143692_143696del, NT_187613.1:g.143693_143696del, NT_187613.1:g.143694_143696del, NT_187613.1:g.143695_143696del, NT_187613.1:g.143696del, NT_187613.1:g.143696dup, NT_187613.1:g.143695_143696dup, NT_187613.1:g.143694_143696dup, NT_187664.1:g.140154_140166del, NT_187664.1:g.140155_140166del, NT_187664.1:g.140156_140166del, NT_187664.1:g.140157_140166del, NT_187664.1:g.140158_140166del, NT_187664.1:g.140159_140166del, NT_187664.1:g.140160_140166del, NT_187664.1:g.140161_140166del, NT_187664.1:g.140162_140166del, NT_187664.1:g.140163_140166del, NT_187664.1:g.140164_140166del, NT_187664.1:g.140165_140166del, NT_187664.1:g.140166del, NT_187664.1:g.140166dup, NT_187664.1:g.140165_140166dup, NT_187664.1:g.140164_140166dup

Select item 149137358611.

rs1491373586 has merged into rs34116299 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 17:1020100 (GRCh38)
17:923340 (GRCh37)
Canonical SPDI:: NC_000017.11:1020089:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:1020089:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:1020089:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.002811/18 (1000Genomes)
HGVS:: NC_000017.11:g.1020100_1020101del, NC_000017.11:g.1020101del, NC_000017.11:g.1020101dup, NC_000017.10:g.923340_923341del, NC_000017.10:g.923341del, NC_000017.10:g.923341dup, NG_011987.2:g.214590_214591del, NG_011987.2:g.214591del, NG_011987.2:g.214591dup, NT_187613.1:g.59347_59348del, NT_187613.1:g.59348del, NT_187613.1:g.59348dup, NT_187664.1:g.59347_59348del, NT_187664.1:g.59348del, NT_187664.1:g.59348dup

Select item 149136242912.

rs1491362429 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG,T [Show Flanks]
Chromosome:: 17:989365 (GRCh38)
17:892606 (GRCh37)
Canonical SPDI:: NC_000017.11:989365::AG,NC_000017.11:989365::T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.989365_989366insAG, NC_000017.11:g.989365_989366insT, NC_000017.10:g.892605_892606insAG, NC_000017.10:g.892605_892606insT, NT_187613.1:g.28612_28613insAG, NT_187613.1:g.28612_28613insT, NT_187664.1:g.28612_28613insAG, NT_187664.1:g.28612_28613insT

Select item 149135252113.

rs1491352521 has merged into rs71148422 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:1058150 (GRCh38)
17:961390 (GRCh37)
Canonical SPDI:: NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1058136:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4383/2195 (1000Genomes)
HGVS:: NC_000017.11:g.1058150_1058156del, NC_000017.11:g.1058151_1058156del, NC_000017.11:g.1058152_1058156del, NC_000017.11:g.1058153_1058156del, NC_000017.11:g.1058154_1058156del, NC_000017.11:g.1058155_1058156del, NC_000017.11:g.1058156del, NC_000017.11:g.1058156dup, NC_000017.11:g.1058155_1058156dup, NC_000017.11:g.1058154_1058156dup, NC_000017.11:g.1058153_1058156dup, NC_000017.11:g.1058152_1058156dup, NC_000017.11:g.1058151_1058156dup, NC_000017.11:g.1058150_1058156dup, NC_000017.11:g.1058149_1058156dup, NC_000017.11:g.1058148_1058156dup, NC_000017.11:g.1058147_1058156dup, NC_000017.11:g.1058146_1058156dup, NC_000017.11:g.1058145_1058156dup, NC_000017.11:g.1058156_1058157insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.961390_961396del, NC_000017.10:g.961391_961396del, NC_000017.10:g.961392_961396del, NC_000017.10:g.961393_961396del, NC_000017.10:g.961394_961396del, NC_000017.10:g.961395_961396del, NC_000017.10:g.961396del, NC_000017.10:g.961396dup, NC_000017.10:g.961395_961396dup, NC_000017.10:g.961394_961396dup, NC_000017.10:g.961393_961396dup, NC_000017.10:g.961392_961396dup, NC_000017.10:g.961391_961396dup, NC_000017.10:g.961390_961396dup, NC_000017.10:g.961389_961396dup, NC_000017.10:g.961388_961396dup, NC_000017.10:g.961387_961396dup, NC_000017.10:g.961386_961396dup, NC_000017.10:g.961385_961396dup, NC_000017.10:g.961396_961397insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011987.2:g.176538_176544del, NG_011987.2:g.176539_176544del, NG_011987.2:g.176540_176544del, NG_011987.2:g.176541_176544del, NG_011987.2:g.176542_176544del, NG_011987.2:g.176543_176544del, NG_011987.2:g.176544del, NG_011987.2:g.176544dup, NG_011987.2:g.176543_176544dup, NG_011987.2:g.176542_176544dup, NG_011987.2:g.176541_176544dup, NG_011987.2:g.176540_176544dup, NG_011987.2:g.176539_176544dup, NG_011987.2:g.176538_176544dup, NG_011987.2:g.176537_176544dup, NG_011987.2:g.176536_176544dup, NG_011987.2:g.176535_176544dup, NG_011987.2:g.176534_176544dup, NG_011987.2:g.176533_176544dup, NG_011987.2:g.176544_176545insAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187613.1:g.96653_96659del, NT_187613.1:g.96654_96659del, NT_187613.1:g.96655_96659del, NT_187613.1:g.96656_96659del, NT_187613.1:g.96657_96659del, NT_187613.1:g.96658_96659del, NT_187613.1:g.96659del, NT_187613.1:g.96659dup, NT_187613.1:g.96658_96659dup, NT_187613.1:g.96657_96659dup, NT_187613.1:g.96656_96659dup, NT_187613.1:g.96655_96659dup, NT_187613.1:g.96654_96659dup, NT_187613.1:g.96653_96659dup, NT_187613.1:g.96652_96659dup, NT_187613.1:g.96651_96659dup, NT_187613.1:g.96650_96659dup, NT_187613.1:g.96649_96659dup, NT_187613.1:g.96648_96659dup, NT_187613.1:g.96659_96660insTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187664.1:g.96503_96509del, NT_187664.1:g.96504_96509del, NT_187664.1:g.96505_96509del, NT_187664.1:g.96506_96509del, NT_187664.1:g.96507_96509del, NT_187664.1:g.96508_96509del, NT_187664.1:g.96509del, NT_187664.1:g.96509dup, NT_187664.1:g.96508_96509dup, NT_187664.1:g.96507_96509dup, NT_187664.1:g.96506_96509dup, NT_187664.1:g.96505_96509dup, NT_187664.1:g.96504_96509dup, NT_187664.1:g.96503_96509dup, NT_187664.1:g.96502_96509dup, NT_187664.1:g.96501_96509dup, NT_187664.1:g.96500_96509dup, NT_187664.1:g.96499_96509dup, NT_187664.1:g.96498_96509dup, NT_187664.1:g.96509_96510insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149134549014.

rs1491345490 has merged into rs370371306 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 17:979116 (GRCh38)
17:882356 (GRCh37)
Canonical SPDI:: NC_000017.11:979108:GGGGGGGGGG:GGGGGGG,NC_000017.11:979108:GGGGGGGGGG:GGGGGGGG,NC_000017.11:979108:GGGGGGGGGG:GGGGGGGGG,NC_000017.11:979108:GGGGGGGGGG:GGGGGGGGGGG,NC_000017.11:979108:GGGGGGGGGG:GGGGGGGGGGGG
Gene:: NXN (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
G=0.125/4 (GENOME_DK)
G=0.3243/192 (NorthernSweden)
G=0.4443/2225 (1000Genomes)
HGVS:: NC_000017.11:g.979116_979118del, NC_000017.11:g.979117_979118del, NC_000017.11:g.979118del, NC_000017.11:g.979118dup, NC_000017.11:g.979117_979118dup, NC_000017.10:g.882356_882358del, NC_000017.10:g.882357_882358del, NC_000017.10:g.882358del, NC_000017.10:g.882358dup, NC_000017.10:g.882357_882358dup, NT_187613.1:g.18363_18365del, NT_187613.1:g.18364_18365del, NT_187613.1:g.18365del, NT_187613.1:g.18365dup, NT_187613.1:g.18364_18365dup, NT_187664.1:g.18363_18365del, NT_187664.1:g.18364_18365del, NT_187664.1:g.18365del, NT_187664.1:g.18365dup, NT_187664.1:g.18364_18365dup

Select item 149134427815.

rs1491344278 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:1101750 (GRCh38)
17:1004991 (GRCh37)
Canonical SPDI:: NC_000017.11:1101750:A:AA
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.1101751dup, NC_000017.10:g.1004991dup, NG_011987.2:g.132930dup, NT_187613.1:g.145298dup, NT_187664.1:g.141768dup

Select item 149133092916.

rs1491330929 has merged into rs748696872 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:1105012 (GRCh38)
17:1008252 (GRCh37)
Canonical SPDI:: NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:1105003:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.1105012_1105026del, NC_000017.11:g.1105013_1105026del, NC_000017.11:g.1105015_1105026del, NC_000017.11:g.1105016_1105026del, NC_000017.11:g.1105018_1105026del, NC_000017.11:g.1105019_1105026del, NC_000017.11:g.1105020_1105026del, NC_000017.11:g.1105021_1105026del, NC_000017.11:g.1105022_1105026del, NC_000017.11:g.1105023_1105026del, NC_000017.11:g.1105024_1105026del, NC_000017.11:g.1105025_1105026del, NC_000017.11:g.1105026del, NC_000017.11:g.1105026dup, NC_000017.11:g.1105025_1105026dup, NC_000017.11:g.1105024_1105026dup, NC_000017.11:g.1105023_1105026dup, NC_000017.11:g.1105022_1105026dup, NC_000017.11:g.1105020_1105026dup, NC_000017.11:g.1105026_1105027insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.1105026_1105027insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.1008252_1008266del, NC_000017.10:g.1008253_1008266del, NC_000017.10:g.1008255_1008266del, NC_000017.10:g.1008256_1008266del, NC_000017.10:g.1008258_1008266del, NC_000017.10:g.1008259_1008266del, NC_000017.10:g.1008260_1008266del, NC_000017.10:g.1008261_1008266del, NC_000017.10:g.1008262_1008266del, NC_000017.10:g.1008263_1008266del, NC_000017.10:g.1008264_1008266del, NC_000017.10:g.1008265_1008266del, NC_000017.10:g.1008266del, NC_000017.10:g.1008266dup, NC_000017.10:g.1008265_1008266dup, NC_000017.10:g.1008264_1008266dup, NC_000017.10:g.1008263_1008266dup, NC_000017.10:g.1008262_1008266dup, NC_000017.10:g.1008260_1008266dup, NC_000017.10:g.1008266_1008267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.1008266_1008267insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_011987.2:g.129663_129677del, NG_011987.2:g.129664_129677del, NG_011987.2:g.129666_129677del, NG_011987.2:g.129667_129677del, NG_011987.2:g.129669_129677del, NG_011987.2:g.129670_129677del, NG_011987.2:g.129671_129677del, NG_011987.2:g.129672_129677del, NG_011987.2:g.129673_129677del, NG_011987.2:g.129674_129677del, NG_011987.2:g.129675_129677del, NG_011987.2:g.129676_129677del, NG_011987.2:g.129677del, NG_011987.2:g.129677dup, NG_011987.2:g.129676_129677dup, NG_011987.2:g.129675_129677dup, NG_011987.2:g.129674_129677dup, NG_011987.2:g.129673_129677dup, NG_011987.2:g.129671_129677dup, NG_011987.2:g.129677_129678insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_011987.2:g.129677_129678insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NT_187613.1:g.148559_148573del, NT_187613.1:g.148560_148573del, NT_187613.1:g.148562_148573del, NT_187613.1:g.148563_148573del, NT_187613.1:g.148565_148573del, NT_187613.1:g.148566_148573del, NT_187613.1:g.148567_148573del, NT_187613.1:g.148568_148573del, NT_187613.1:g.148569_148573del, NT_187613.1:g.148570_148573del, NT_187613.1:g.148571_148573del, NT_187613.1:g.148572_148573del, NT_187613.1:g.148573del, NT_187613.1:g.148573dup, NT_187613.1:g.148572_148573dup, NT_187613.1:g.148571_148573dup, NT_187613.1:g.148570_148573dup, NT_187613.1:g.148569_148573dup, NT_187613.1:g.148567_148573dup, NT_187613.1:g.148573_148574insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187613.1:g.148573_148574insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187664.1:g.145029_145043del, NT_187664.1:g.145030_145043del, NT_187664.1:g.145032_145043del, NT_187664.1:g.145033_145043del, NT_187664.1:g.145035_145043del, NT_187664.1:g.145036_145043del, NT_187664.1:g.145037_145043del, NT_187664.1:g.145038_145043del, NT_187664.1:g.145039_145043del, NT_187664.1:g.145040_145043del, NT_187664.1:g.145041_145043del, NT_187664.1:g.145042_145043del, NT_187664.1:g.145043del, NT_187664.1:g.145043dup, NT_187664.1:g.145042_145043dup, NT_187664.1:g.145041_145043dup, NT_187664.1:g.145040_145043dup, NT_187664.1:g.145039_145043dup, NT_187664.1:g.145037_145043dup, NT_187664.1:g.145043_145044insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NT_187664.1:g.145043_145044insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149131828417.

rs1491318284 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:1101750 (GRCh38)
17:1004990 (GRCh37)
Canonical SPDI:: NC_000017.11:1101749:TA:
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.1101750_1101751del, NC_000017.10:g.1004990_1004991del, NG_011987.2:g.132930_132931del, NT_187613.1:g.145297_145298del, NT_187664.1:g.141767_141768del

Select item 149131312118.

rs1491313121 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:979108 (GRCh38)
17:882348 (GRCh37)
Canonical SPDI:: NC_000017.11:979107:AG:
Gene:: NXN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00042/5 (ALFA)
-=0.00247/40 (GnomAD)
HGVS:: NC_000017.11:g.979108_979109del, NC_000017.10:g.882348_882349del, NT_187613.1:g.18355_18356del, NT_187664.1:g.18355_18356del

Select item 149131254219.

rs1491312542 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:1024024 (GRCh38)
17:927264 (GRCh37)
Canonical SPDI:: NC_000017.11:1024023:CA:
Gene:: ABR (Varview), MIR3183 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.1024024_1024025del, NC_000017.10:g.927264_927265del, NG_011987.2:g.210656_210657del, NT_187613.1:g.63271_63272del, NT_187664.1:g.63271_63272del

Select item 149130574320.

rs1491305743 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:1078105 (GRCh38)
17:981346 (GRCh37)
Canonical SPDI:: NC_000017.11:1078105:T:TT
Gene:: ABR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1078106dup, NC_000017.10:g.981346dup, NG_011987.2:g.156575dup, NT_187613.1:g.121653dup, NT_187664.1:g.118123dup

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