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Select item 14915588801.

rs1491558880 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAAA [Show Flanks]
Chromosome:: 7:55157610 (GRCh38)
7:55225304 (GRCh37)
Canonical SPDI:: NC_000007.14:55157610:AAAAAGAAA:AAAAAGAAAAAGAAA
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAGAAAAAGAAA=0./0 (ALFA)
AAAAAG=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55157614_55157619dup, NC_000007.13:g.55225307_55225312dup, NG_007726.3:g.143583_143588dup

Select item 14915453242.

rs1491545324 has merged into rs5884400 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 7:55123896 (GRCh38)
7:55191589 (GRCh37)
Canonical SPDI:: NC_000007.14:55123885:TGTGTGTGTGTGTG:TGTGTGTGTG,NC_000007.14:55123885:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000007.14:55123885:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG
Gene:: EGFR (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTG=0.000207/2 (ALFA)
TG=0.273585/58 (Vietnamese)
TG=0.385/231 (NorthernSweden)
TG=0.413828/413 (GoNL)
TG=0.471446/2361 (1000Genomes)
TG=0.486395/128744 (TOPMED)
HGVS:: NC_000007.14:g.55123886TG[5], NC_000007.14:g.55123886TG[6], NC_000007.14:g.55123886TG[8], NC_000007.13:g.55191579TG[5], NC_000007.13:g.55191579TG[6], NC_000007.13:g.55191579TG[8], NG_007726.3:g.109855TG[5], NG_007726.3:g.109855TG[6], NG_007726.3:g.109855TG[8], XM_047419952.1:c.-10615TG[5], XM_047419952.1:c.-10615TG[6], XM_047419952.1:c.-10615TG[8]

Select item 14915196273.

rs1491519627 has merged into rs34058394 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: 7:55116550 (GRCh38)
7:55184243 (GRCh37)
Canonical SPDI:: NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:55116536:ACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Gene:: EGFR (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
AC=0.4449/2228 (1000Genomes)
HGVS:: NC_000007.14:g.55116538CA[6], NC_000007.14:g.55116538CA[7], NC_000007.14:g.55116538CA[8], NC_000007.14:g.55116538CA[9], NC_000007.14:g.55116538CA[11], NC_000007.14:g.55116538CA[12], NC_000007.14:g.55116538CA[13], NC_000007.14:g.55116538CA[14], NC_000007.14:g.55116538CA[15], NC_000007.13:g.55184231CA[6], NC_000007.13:g.55184231CA[7], NC_000007.13:g.55184231CA[8], NC_000007.13:g.55184231CA[9], NC_000007.13:g.55184231CA[11], NC_000007.13:g.55184231CA[12], NC_000007.13:g.55184231CA[13], NC_000007.13:g.55184231CA[14], NC_000007.13:g.55184231CA[15], NG_007726.3:g.102507CA[6], NG_007726.3:g.102507CA[7], NG_007726.3:g.102507CA[8], NG_007726.3:g.102507CA[9], NG_007726.3:g.102507CA[11], NG_007726.3:g.102507CA[12], NG_007726.3:g.102507CA[13], NG_007726.3:g.102507CA[14], NG_007726.3:g.102507CA[15], XM_047419952.1:c.-17963CA[6], XM_047419952.1:c.-17963CA[7], XM_047419952.1:c.-17963CA[8], XM_047419952.1:c.-17963CA[9], XM_047419952.1:c.-17963CA[11], XM_047419952.1:c.-17963CA[12], XM_047419952.1:c.-17963CA[13], XM_047419952.1:c.-17963CA[14], XM_047419952.1:c.-17963CA[15]

Select item 14915163734.

rs1491516373 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 7:55157420 (GRCh38)
7:55225113 (GRCh37)
Canonical SPDI:: NC_000007.14:55157419:GGGGGG:GGGGG,NC_000007.14:55157419:GGGGGG:GGGGGGG
Gene:: EGFR (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.55157425del, NC_000007.14:g.55157425dup, NC_000007.13:g.55225118del, NC_000007.13:g.55225118dup, NG_007726.3:g.143394del, NG_007726.3:g.143394dup

Select item 14914951465.

rs1491495146 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TGT,TGTGT [Show Flanks]
Chromosome:: 7:55036272 (GRCh38)
7:55103966 (GRCh37)
Canonical SPDI:: NC_000007.14:55036272::T,NC_000007.14:55036272::TGT,NC_000007.14:55036272::TGTGT
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
T=0.0004/6 (TOMMO)
T=0.0649/27 (NorthernSweden)
HGVS:: NC_000007.14:g.55036272_55036273insT, NC_000007.14:g.55036272_55036273insTGT, NC_000007.14:g.55036272_55036273insTGTGT, NC_000007.13:g.55103965_55103966insT, NC_000007.13:g.55103965_55103966insTGT, NC_000007.13:g.55103965_55103966insTGTGT, NG_007726.3:g.22241_22242insT, NG_007726.3:g.22241_22242insTGT, NG_007726.3:g.22241_22242insTGTGT

Select item 14914697026.

rs1491469702 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:55205899 (GRCh38)
7:55273593 (GRCh37)
Canonical SPDI:: NC_000007.14:55205899::G
Gene:: EGFR (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/2 (GnomAD)
HGVS:: NC_000007.14:g.55205899_55205900insG, NC_000007.13:g.55273592_55273593insG, NG_007726.3:g.191868_191869insG, NM_005228.5:c.*282_*283insG, NM_005228.4:c.*282_*283insG, NM_005228.3:c.*282_*283insG, NM_001346899.2:c.*282_*283insG, NM_001346899.1:c.*282_*283insG, NM_001346900.2:c.*282_*283insG, NM_001346900.1:c.*282_*283insG, NM_001346941.2:c.*282_*283insG, NM_001346941.1:c.*282_*283insG, XM_047419952.1:c.*282_*283insG, XM_047419953.1:c.*282_*283insG

Select item 14912578547.

rs1491257854 has merged into rs3063036 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 7:55038756 (GRCh38)
7:55106449 (GRCh37)
Canonical SPDI:: NC_000007.14:55038744:TGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000007.14:55038744:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000007.14:55038744:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:55038744:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:55038744:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT
Gene:: EGFR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.00218/4 (Korea1K)
TG=0.075/3 (GENOME_DK)
HGVS:: NC_000007.14:g.55038746GT[5], NC_000007.14:g.55038746GT[6], NC_000007.14:g.55038746GT[8], NC_000007.14:g.55038746GT[9], NC_000007.14:g.55038746GT[10], NC_000007.13:g.55106439GT[5], NC_000007.13:g.55106439GT[6], NC_000007.13:g.55106439GT[8], NC_000007.13:g.55106439GT[9], NC_000007.13:g.55106439GT[10], NG_007726.3:g.24715GT[5], NG_007726.3:g.24715GT[6], NG_007726.3:g.24715GT[8], NG_007726.3:g.24715GT[9], NG_007726.3:g.24715GT[10]

Select item 14912477238.

rs1491247723 has merged into rs34610296 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 7:55081732 (GRCh38)
7:55149425 (GRCh37)
Canonical SPDI:: NC_000007.14:55081720:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:55081720:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:55081720:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:55081720:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:55081720:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: EGFR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.075/3 (GENOME_DK)
T=0.101186/26783 (TOPMED)
HGVS:: NC_000007.14:g.55081732_55081733del, NC_000007.14:g.55081733del, NC_000007.14:g.55081733dup, NC_000007.14:g.55081732_55081733dup, NC_000007.14:g.55081731_55081733dup, NC_000007.13:g.55149425_55149426del, NC_000007.13:g.55149426del, NC_000007.13:g.55149426dup, NC_000007.13:g.55149425_55149426dup, NC_000007.13:g.55149424_55149426dup, NG_007726.3:g.67701_67702del, NG_007726.3:g.67702del, NG_007726.3:g.67702dup, NG_007726.3:g.67701_67702dup, NG_007726.3:g.67700_67702dup

Select item 14912209919.

rs1491220991 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGGTGATGGTGGTG,GTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGTTGATGGTGGTG [Show Flanks]
Chromosome:: 7:55167084 (GRCh38)
7:55234778 (GRCh37)
Canonical SPDI:: NC_000007.14:55167084:TG:TGGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGGTGATGGTGGTG,NC_000007.14:55167084:TG:TGGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGTTGATGGTGGTG
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.55167086_55167087insGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGGTGATGGTGGTG, NC_000007.14:g.55167086_55167087insGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGTTGATGGTGGTG, NC_000007.13:g.55234779_55234780insGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGGTGATGGTGGTG, NC_000007.13:g.55234779_55234780insGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGTTGATGGTGGTG, NG_007726.3:g.153055_153056insGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGGTGATGGTGGTG, NG_007726.3:g.153055_153056insGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGTTGATGGTGGTG

Select item 149120876310.

rs1491208763 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTG [Show Flanks]
Chromosome:: 7:55067919 (GRCh38)
7:55135613 (GRCh37)
Canonical SPDI:: NC_000007.14:55067919:GTG:GTGGTG
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGGTG=0./0 (ALFA)
GTG=0.000004/1 (TOPMED)
GTG=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.55067920_55067922dup, NC_000007.13:g.55135613_55135615dup, NG_007726.3:g.53889_53891dup

Select item 149117659511.

rs1491176595 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:55065848 (GRCh38)
7:55133541 (GRCh37)
Canonical SPDI:: NC_000007.14:55065847:TG:
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00008/11 (GnomAD)
HGVS:: NC_000007.14:g.55065848_55065849del, NC_000007.13:g.55133541_55133542del, NG_007726.3:g.51817_51818del

Select item 149116834112.

rs1491168341 [Homo sapiens]

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

Select item 149112908813.

rs1491129088 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 7:55157614 (GRCh38)
7:55225307 (GRCh37)
Canonical SPDI:: NC_000007.14:55157609:AAAAAA:AAAA,NC_000007.14:55157609:AAAAAA:AAAAAAA
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.55157614_55157615del, NC_000007.14:g.55157615dup, NC_000007.13:g.55225307_55225308del, NC_000007.13:g.55225308dup, NG_007726.3:g.143583_143584del, NG_007726.3:g.143584dup

Select item 149111786314.

rs1491117863 has merged into rs5884404 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 7:55205908 (GRCh38)
7:55273601 (GRCh37)
Canonical SPDI:: NC_000007.14:55205898:AAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:55205898:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:55205898:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:55205898:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:55205898:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:55205898:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:55205898:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: EGFR (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.2/8 (GENOME_DK)
A=0.248921/923 (TWINSUK)
A=0.262584/1012 (ALSPAC)
A=0.452077/2264 (1000Genomes)
HGVS:: NC_000007.14:g.55205908_55205911del, NC_000007.14:g.55205910_55205911del, NC_000007.14:g.55205911del, NC_000007.14:g.55205911dup, NC_000007.14:g.55205910_55205911dup, NC_000007.14:g.55205909_55205911dup, NC_000007.14:g.55205908_55205911dup, NC_000007.13:g.55273601_55273604del, NC_000007.13:g.55273603_55273604del, NC_000007.13:g.55273604del, NC_000007.13:g.55273604dup, NC_000007.13:g.55273603_55273604dup, NC_000007.13:g.55273602_55273604dup, NC_000007.13:g.55273601_55273604dup, NG_007726.3:g.191877_191880del, NG_007726.3:g.191879_191880del, NG_007726.3:g.191880del, NG_007726.3:g.191880dup, NG_007726.3:g.191879_191880dup, NG_007726.3:g.191878_191880dup, NG_007726.3:g.191877_191880dup, NM_005228.5:c.*291_*294del, NM_005228.5:c.*293_*294del, NM_005228.5:c.*294del, NM_005228.5:c.*294dup, NM_005228.5:c.*293_*294dup, NM_005228.5:c.*292_*294dup, NM_005228.5:c.*291_*294dup, NM_005228.4:c.*291_*294del, NM_005228.4:c.*293_*294del, NM_005228.4:c.*294del, NM_005228.4:c.*294dup, NM_005228.4:c.*293_*294dup, NM_005228.4:c.*292_*294dup, NM_005228.4:c.*291_*294dup, NM_005228.3:c.*291_*294del, NM_005228.3:c.*293_*294del, NM_005228.3:c.*294del, NM_005228.3:c.*294dup, NM_005228.3:c.*293_*294dup, NM_005228.3:c.*292_*294dup, NM_005228.3:c.*291_*294dup, NM_001346899.2:c.*291_*294del, NM_001346899.2:c.*293_*294del, NM_001346899.2:c.*294del, NM_001346899.2:c.*294dup, NM_001346899.2:c.*293_*294dup, NM_001346899.2:c.*292_*294dup, NM_001346899.2:c.*291_*294dup, NM_001346899.1:c.*291_*294del, NM_001346899.1:c.*293_*294del, NM_001346899.1:c.*294del, NM_001346899.1:c.*294dup, NM_001346899.1:c.*293_*294dup, NM_001346899.1:c.*292_*294dup, NM_001346899.1:c.*291_*294dup, NM_001346900.2:c.*291_*294del, NM_001346900.2:c.*293_*294del, NM_001346900.2:c.*294del, NM_001346900.2:c.*294dup, NM_001346900.2:c.*293_*294dup, NM_001346900.2:c.*292_*294dup, NM_001346900.2:c.*291_*294dup, NM_001346900.1:c.*291_*294del, NM_001346900.1:c.*293_*294del, NM_001346900.1:c.*294del, NM_001346900.1:c.*294dup, NM_001346900.1:c.*293_*294dup, NM_001346900.1:c.*292_*294dup, NM_001346900.1:c.*291_*294dup, NM_001346941.2:c.*291_*294del, NM_001346941.2:c.*293_*294del, NM_001346941.2:c.*294del, NM_001346941.2:c.*294dup, NM_001346941.2:c.*293_*294dup, NM_001346941.2:c.*292_*294dup, NM_001346941.2:c.*291_*294dup, NM_001346941.1:c.*291_*294del, NM_001346941.1:c.*293_*294del, NM_001346941.1:c.*294del, NM_001346941.1:c.*294dup, NM_001346941.1:c.*293_*294dup, NM_001346941.1:c.*292_*294dup, NM_001346941.1:c.*291_*294dup, XM_047419952.1:c.*291_*294del, XM_047419952.1:c.*293_*294del, XM_047419952.1:c.*294del, XM_047419952.1:c.*294dup, XM_047419952.1:c.*293_*294dup, XM_047419952.1:c.*292_*294dup, XM_047419952.1:c.*291_*294dup, XM_047419953.1:c.*291_*294del, XM_047419953.1:c.*293_*294del, XM_047419953.1:c.*294del, XM_047419953.1:c.*294dup, XM_047419953.1:c.*293_*294dup, XM_047419953.1:c.*292_*294dup, XM_047419953.1:c.*291_*294dup

Select item 149109684115.

rs1491096841 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATATATATATG,TATATATATATG,TATATATATG,TATATATG,TATATG,TATG,TG [Show Flanks]
Chromosome:: 7:55028026 (GRCh38)
7:55095720 (GRCh37)
Canonical SPDI:: NC_000007.14:55028026::TATATATATATATG,NC_000007.14:55028026::TATATATATATG,NC_000007.14:55028026::TATATATATG,NC_000007.14:55028026::TATATATG,NC_000007.14:55028026::TATATG,NC_000007.14:55028026::TATG,NC_000007.14:55028026::TG
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATG=0./0 (ALFA)
TATG=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55028026_55028027insTATATATATATATG, NC_000007.14:g.55028026_55028027insTATATATATATG, NC_000007.14:g.55028026_55028027insTATATATATG, NC_000007.14:g.55028026_55028027insTATATATG, NC_000007.14:g.55028026_55028027insTATATG, NC_000007.14:g.55028026_55028027insTATG, NC_000007.14:g.55028026_55028027insTG, NC_000007.13:g.55095719_55095720insTATATATATATATG, NC_000007.13:g.55095719_55095720insTATATATATATG, NC_000007.13:g.55095719_55095720insTATATATATG, NC_000007.13:g.55095719_55095720insTATATATG, NC_000007.13:g.55095719_55095720insTATATG, NC_000007.13:g.55095719_55095720insTATG, NC_000007.13:g.55095719_55095720insTG, NG_007726.3:g.13995_13996insTATATATATATATG, NG_007726.3:g.13995_13996insTATATATATATG, NG_007726.3:g.13995_13996insTATATATATG, NG_007726.3:g.13995_13996insTATATATG, NG_007726.3:g.13995_13996insTATATG, NG_007726.3:g.13995_13996insTATG, NG_007726.3:g.13995_13996insTG

Select item 149108214316.

rs1491082143 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACATA [Show Flanks]
Chromosome:: 7:55028039 (GRCh38)
7:55095733 (GRCh37)
Canonical SPDI:: NC_000007.14:55028039:A:ACACATA
Gene:: EGFR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACACATA=0./0 (ALFA)
HGVS:: NC_000007.14:g.55028040AC[2]ATA[1], NC_000007.13:g.55095733AC[2]ATA[1], NG_007726.3:g.14009AC[2]ATA[1]

Select item 149107121417.

rs1491071214 has merged into rs1174312198 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 7:55061664 (GRCh38)
7:55129357 (GRCh37)
Canonical SPDI:: NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:55061649:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: EGFR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGA=0./0 (ALFA)
GA=0.02226/373 (TOMMO)
HGVS:: NC_000007.14:g.55061650GA[7], NC_000007.14:g.55061650GA[8], NC_000007.14:g.55061650GA[9], NC_000007.14:g.55061650GA[10], NC_000007.14:g.55061650GA[11], NC_000007.14:g.55061650GA[13], NC_000007.14:g.55061650GA[14], NC_000007.14:g.55061650GA[15], NC_000007.14:g.55061650GA[16], NC_000007.14:g.55061650GA[17], NC_000007.14:g.55061650GA[18], NC_000007.13:g.55129343GA[7], NC_000007.13:g.55129343GA[8], NC_000007.13:g.55129343GA[9], NC_000007.13:g.55129343GA[10], NC_000007.13:g.55129343GA[11], NC_000007.13:g.55129343GA[13], NC_000007.13:g.55129343GA[14], NC_000007.13:g.55129343GA[15], NC_000007.13:g.55129343GA[16], NC_000007.13:g.55129343GA[17], NC_000007.13:g.55129343GA[18], NG_007726.3:g.47619GA[7], NG_007726.3:g.47619GA[8], NG_007726.3:g.47619GA[9], NG_007726.3:g.47619GA[10], NG_007726.3:g.47619GA[11], NG_007726.3:g.47619GA[13], NG_007726.3:g.47619GA[14], NG_007726.3:g.47619GA[15], NG_007726.3:g.47619GA[16], NG_007726.3:g.47619GA[17], NG_007726.3:g.47619GA[18]

Select item 149105177018.

rs1491051770 has merged into rs11372886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:55023661 (GRCh38)
7:55091354 (GRCh37)
Canonical SPDI:: NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:55023650:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EGFR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.55023661_55023669del, NC_000007.14:g.55023665_55023669del, NC_000007.14:g.55023666_55023669del, NC_000007.14:g.55023667_55023669del, NC_000007.14:g.55023668_55023669del, NC_000007.14:g.55023669del, NC_000007.14:g.55023669dup, NC_000007.14:g.55023668_55023669dup, NC_000007.14:g.55023667_55023669dup, NC_000007.14:g.55023666_55023669dup, NC_000007.14:g.55023665_55023669dup, NC_000007.14:g.55023664_55023669dup, NC_000007.14:g.55023663_55023669dup, NC_000007.13:g.55091354_55091362del, NC_000007.13:g.55091358_55091362del, NC_000007.13:g.55091359_55091362del, NC_000007.13:g.55091360_55091362del, NC_000007.13:g.55091361_55091362del, NC_000007.13:g.55091362del, NC_000007.13:g.55091362dup, NC_000007.13:g.55091361_55091362dup, NC_000007.13:g.55091360_55091362dup, NC_000007.13:g.55091359_55091362dup, NC_000007.13:g.55091358_55091362dup, NC_000007.13:g.55091357_55091362dup, NC_000007.13:g.55091356_55091362dup, NG_007726.3:g.9630_9638del, NG_007726.3:g.9634_9638del, NG_007726.3:g.9635_9638del, NG_007726.3:g.9636_9638del, NG_007726.3:g.9637_9638del, NG_007726.3:g.9638del, NG_007726.3:g.9638dup, NG_007726.3:g.9637_9638dup, NG_007726.3:g.9636_9638dup, NG_007726.3:g.9635_9638dup, NG_007726.3:g.9634_9638dup, NG_007726.3:g.9633_9638dup, NG_007726.3:g.9632_9638dup

Select item 149104857319.

rs1491048573 has merged into rs34074299 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACAC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
Chromosome:: 7:55055733 (GRCh38)
7:55123426 (GRCh37)
Canonical SPDI:: NC_000007.14:55055723:CACACACACACACACAC:CACACACAC,NC_000007.14:55055723:CACACACACACACACAC:CACACACACACAC,NC_000007.14:55055723:CACACACACACACACAC:CACACACACACACAC,NC_000007.14:55055723:CACACACACACACACAC:CACACACACACACACACAC,NC_000007.14:55055723:CACACACACACACACAC:CACACACACACACACACACAC,NC_000007.14:55055723:CACACACACACACACAC:CACACACACACACACACACACAC
Gene:: EGFR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.55055725AC[4], NC_000007.14:g.55055725AC[6], NC_000007.14:g.55055725AC[7], NC_000007.14:g.55055725AC[9], NC_000007.14:g.55055725AC[10], NC_000007.14:g.55055725AC[11], NC_000007.13:g.55123418AC[4], NC_000007.13:g.55123418AC[6], NC_000007.13:g.55123418AC[7], NC_000007.13:g.55123418AC[9], NC_000007.13:g.55123418AC[10], NC_000007.13:g.55123418AC[11], NG_007726.3:g.41694AC[4], NG_007726.3:g.41694AC[6], NG_007726.3:g.41694AC[7], NG_007726.3:g.41694AC[9], NG_007726.3:g.41694AC[10], NG_007726.3:g.41694AC[11]

Select item 149104490620.

rs1491044906 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:55204645 (GRCh38)
7:55272339 (GRCh37)
Canonical SPDI:: NC_000007.14:55204645::C
Gene:: EGFR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00006/4 (GnomAD)
HGVS:: NC_000007.14:g.55204645_55204646insC, NC_000007.13:g.55272338_55272339insC, NG_007726.3:g.190614_190615insC

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