SNP Links for Gene (Select 93556) - SNP

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Select item 14915874651.

rs1491587465 has merged into rs938112245 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 3:168452558 (GRCh38)
3:168170346 (GRCh37)
Canonical SPDI:: NC_000003.12:168452555:TCTC:TC,NC_000003.12:168452555:TCTC:TCTCTC
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTC=0./0 (ALFA)
-=0.00387/64 (TOMMO)
-=0.0071/13 (Korea1K)
HGVS:: NC_000003.12:g.168452556TC[1], NC_000003.12:g.168452556TC[3], NC_000003.11:g.168170344TC[1], NC_000003.11:g.168170344TC[3]

Select item 14915873942.

rs1491587394 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TGGTTTTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TGGTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTGTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:168381909 (GRCh38)
3:168099698 (GRCh37)
Canonical SPDI:: NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGGGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGGTTTTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGGTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000003.12:168381909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC=0.007/4 (NorthernSweden)
HGVS:: NC_000003.12:g.168381910_168381928T[20]GGGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.168381910_168381928T[20]GGTTTTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.168381910_168381928T[20]GGTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.168381910_168381928T[21]GTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.168381910_168381928T[23]GTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.168381910_168381928T[26]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.168381910_168381928T[31]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.168381910_168381928T[41]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[20]GGGTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[20]GGTTTTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[20]GGTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[21]GTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[23]GTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[26]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[31]CTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.168099698_168099716T[41]CTTTTTTTTTTTTTTTTTTT[1]

Select item 14915641493.

rs1491564149 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:168477440 (GRCh38)
3:168195228 (GRCh37)
Canonical SPDI:: NC_000003.12:168477439:TA:
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.168477440_168477441del, NC_000003.11:g.168195228_168195229del

Select item 14915619224.

rs1491561922 has merged into rs58656550 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:168599954 (GRCh38)
3:168317742 (GRCh37)
Canonical SPDI:: NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168599945:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.168599954_168599969del, NC_000003.12:g.168599956_168599969del, NC_000003.12:g.168599958_168599969del, NC_000003.12:g.168599961_168599969del, NC_000003.12:g.168599962_168599969del, NC_000003.12:g.168599963_168599969del, NC_000003.12:g.168599964_168599969del, NC_000003.12:g.168599965_168599969del, NC_000003.12:g.168599966_168599969del, NC_000003.12:g.168599967_168599969del, NC_000003.12:g.168599968_168599969del, NC_000003.12:g.168599969del, NC_000003.12:g.168599969dup, NC_000003.12:g.168599968_168599969dup, NC_000003.12:g.168599967_168599969dup, NC_000003.12:g.168599966_168599969dup, NC_000003.12:g.168599965_168599969dup, NC_000003.12:g.168599964_168599969dup, NC_000003.12:g.168599963_168599969dup, NC_000003.12:g.168599962_168599969dup, NC_000003.12:g.168599961_168599969dup, NC_000003.12:g.168599954_168599969dup, NC_000003.12:g.168599969_168599970insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.168317742_168317757del, NC_000003.11:g.168317744_168317757del, NC_000003.11:g.168317746_168317757del, NC_000003.11:g.168317749_168317757del, NC_000003.11:g.168317750_168317757del, NC_000003.11:g.168317751_168317757del, NC_000003.11:g.168317752_168317757del, NC_000003.11:g.168317753_168317757del, NC_000003.11:g.168317754_168317757del, NC_000003.11:g.168317755_168317757del, NC_000003.11:g.168317756_168317757del, NC_000003.11:g.168317757del, NC_000003.11:g.168317757dup, NC_000003.11:g.168317756_168317757dup, NC_000003.11:g.168317755_168317757dup, NC_000003.11:g.168317754_168317757dup, NC_000003.11:g.168317753_168317757dup, NC_000003.11:g.168317752_168317757dup, NC_000003.11:g.168317751_168317757dup, NC_000003.11:g.168317750_168317757dup, NC_000003.11:g.168317749_168317757dup, NC_000003.11:g.168317742_168317757dup, NC_000003.11:g.168317757_168317758insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915581695.

rs1491558169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGTAAA [Show Flanks]
Chromosome:: 3:168577365 (GRCh38)
3:168295154 (GRCh37)
Canonical SPDI:: NC_000003.12:168577365:GTGTAAA:GTGTAAAGTGTAAA
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTAAAGTGTAAA=0./0 (ALFA)
GTGTAAA=0.000004/1 (TOPMED)
GTGTAAA=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.168577366_168577372dup, NC_000003.11:g.168295154_168295160dup

Select item 14915567506.

rs1491556750 has merged into rs11306565 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 3:168588536 (GRCh38)
3:168306324 (GRCh37)
Canonical SPDI:: NC_000003.12:168588525:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:168588525:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:168588525:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:168588525:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.325/13 (GENOME_DK)
T=0.356/1320 (TWINSUK)
T=0.3597/359 (GoNL)
T=0.363/1399 (ALSPAC)
T=0.3691/220 (NorthernSweden)
-=0.4734/2231 (1000Genomes)
HGVS:: NC_000003.12:g.168588536_168588537del, NC_000003.12:g.168588537del, NC_000003.12:g.168588537dup, NC_000003.12:g.168588536_168588537dup, NC_000003.11:g.168306324_168306325del, NC_000003.11:g.168306325del, NC_000003.11:g.168306325dup, NC_000003.11:g.168306324_168306325dup

Select item 14915552847.

rs1491555284 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTC [Show Flanks]
Chromosome:: 3:168477424 (GRCh38)
3:168195213 (GRCh37)
Canonical SPDI:: NC_000003.12:168477424::C,NC_000003.12:168477424::CTC
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00025/4 (TOMMO)
C=0.00025/9 (GnomAD)
HGVS:: NC_000003.12:g.168477424_168477425insC, NC_000003.12:g.168477424_168477425insCTC, NC_000003.11:g.168195212_168195213insC, NC_000003.11:g.168195212_168195213insCTC

Select item 14915535698.

rs1491553569 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:168749020 (GRCh38)
3:168466808 (GRCh37)
Canonical SPDI:: NC_000003.12:168749019:TA:
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000003.12:g.168749020_168749021del, NC_000003.11:g.168466808_168466809del

Select item 14915476799.

rs1491547679 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 3:168711291 (GRCh38)
3:168429080 (GRCh37)
Canonical SPDI:: NC_000003.12:168711291:T:TATAT,NC_000003.12:168711291:T:TATATAT,NC_000003.12:168711291:T:TATATATAT,NC_000003.12:168711291:T:TATATATATAT
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.168711292_168711293insATAT, NC_000003.12:g.168711293AT[3], NC_000003.12:g.168711293AT[4], NC_000003.12:g.168711293AT[5], NC_000003.11:g.168429080_168429081insATAT, NC_000003.11:g.168429081AT[3], NC_000003.11:g.168429081AT[4], NC_000003.11:g.168429081AT[5]

Select item 149154055110.

rs1491540551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:168602477 (GRCh38)
3:168320266 (GRCh37)
Canonical SPDI:: NC_000003.12:168602477:C:CC
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000144/19 (GnomAD)
HGVS:: NC_000003.12:g.168602478dup, NC_000003.11:g.168320266dup

Select item 149153026111.

rs1491530261 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 3:168355103 (GRCh38)
3:168072892 (GRCh37)
Canonical SPDI:: NC_000003.12:168355103:A:ATA
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000003.12:g.168355104_168355105insTA, NC_000003.11:g.168072892_168072893insTA

Select item 149152141712.

rs1491521417 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:168712341 (GRCh38)
3:168430129 (GRCh37)
Canonical SPDI:: NC_000003.12:168712340:TA:
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.168712341_168712342del, NC_000003.11:g.168430129_168430130del

Select item 149151958413.

rs1491519584 has merged into rs1553767202 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTATTTGTTT [Show Flanks]
Chromosome:: 3:168578251 (GRCh38)
3:168296039 (GRCh37)
Canonical SPDI:: NC_000003.12:168578249:TTT:T,NC_000003.12:168578249:TTT:TTTATTTGTTT
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00009/12 (GnomAD)
TTTATTTG=0.012675/47 (TWINSUK)
TTTATTTG=0.015828/61 (ALSPAC)
HGVS:: NC_000003.12:g.168578251_168578252del, NC_000003.12:g.168578252_168578253insATTTGTTT, NC_000003.11:g.168296039_168296040del, NC_000003.11:g.168296040_168296041insATTTGTTT

Select item 149151462314.

rs1491514623 has merged into rs753458565 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:168688142 (GRCh38)
3:168405930 (GRCh37)
Canonical SPDI:: NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:168688128:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
AAAAAAA=0.1/4 (GENOME_DK)
HGVS:: NC_000003.12:g.168688142_168688146del, NC_000003.12:g.168688143_168688146del, NC_000003.12:g.168688144_168688146del, NC_000003.12:g.168688145_168688146del, NC_000003.12:g.168688146del, NC_000003.12:g.168688146dup, NC_000003.12:g.168688145_168688146dup, NC_000003.12:g.168688144_168688146dup, NC_000003.12:g.168688143_168688146dup, NC_000003.12:g.168688142_168688146dup, NC_000003.12:g.168688141_168688146dup, NC_000003.12:g.168688140_168688146dup, NC_000003.12:g.168688139_168688146dup, NC_000003.12:g.168688138_168688146dup, NC_000003.12:g.168688137_168688146dup, NC_000003.12:g.168688132_168688146dup, NC_000003.12:g.168688146_168688147insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.168405930_168405934del, NC_000003.11:g.168405931_168405934del, NC_000003.11:g.168405932_168405934del, NC_000003.11:g.168405933_168405934del, NC_000003.11:g.168405934del, NC_000003.11:g.168405934dup, NC_000003.11:g.168405933_168405934dup, NC_000003.11:g.168405932_168405934dup, NC_000003.11:g.168405931_168405934dup, NC_000003.11:g.168405930_168405934dup, NC_000003.11:g.168405929_168405934dup, NC_000003.11:g.168405928_168405934dup, NC_000003.11:g.168405927_168405934dup, NC_000003.11:g.168405926_168405934dup, NC_000003.11:g.168405925_168405934dup, NC_000003.11:g.168405920_168405934dup, NC_000003.11:g.168405934_168405935insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149150660415.

rs1491506604 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA [Show Flanks]
Chromosome:: 3:168413070 (GRCh38)
3:168130859 (GRCh37)
Canonical SPDI:: NC_000003.12:168413070::A,NC_000003.12:168413070::ATA,NC_000003.12:168413070::ATATA,NC_000003.12:168413070::ATATATA,NC_000003.12:168413070::ATATATATA,NC_000003.12:168413070::ATATATATATA,NC_000003.12:168413070::ATATATATATATA
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.00084/11 (TOMMO)
A=0.00947/5 (NorthernSweden)
HGVS:: NC_000003.12:g.168413070_168413071insA, NC_000003.12:g.168413070_168413071insATA, NC_000003.12:g.168413070_168413071insATATA, NC_000003.12:g.168413070_168413071insATATATA, NC_000003.12:g.168413070_168413071insATATATATA, NC_000003.12:g.168413070_168413071insATATATATATA, NC_000003.12:g.168413070_168413071insATATATATATATA, NC_000003.11:g.168130858_168130859insA, NC_000003.11:g.168130858_168130859insATA, NC_000003.11:g.168130858_168130859insATATA, NC_000003.11:g.168130858_168130859insATATATA, NC_000003.11:g.168130858_168130859insATATATATA, NC_000003.11:g.168130858_168130859insATATATATATA, NC_000003.11:g.168130858_168130859insATATATATATATA

Select item 149149889516.

rs1491498895 has merged into rs35278787 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:168248622 (GRCh38)
3:167966410 (GRCh37)
Canonical SPDI:: NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:168248610:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EGFEM1P (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.168248622_168248633del, NC_000003.12:g.168248623_168248633del, NC_000003.12:g.168248624_168248633del, NC_000003.12:g.168248625_168248633del, NC_000003.12:g.168248626_168248633del, NC_000003.12:g.168248627_168248633del, NC_000003.12:g.168248628_168248633del, NC_000003.12:g.168248629_168248633del, NC_000003.12:g.168248630_168248633del, NC_000003.12:g.168248631_168248633del, NC_000003.12:g.168248632_168248633del, NC_000003.12:g.168248633del, NC_000003.12:g.168248633dup, NC_000003.12:g.168248632_168248633dup, NC_000003.12:g.168248631_168248633dup, NC_000003.12:g.168248630_168248633dup, NC_000003.12:g.168248629_168248633dup, NC_000003.12:g.168248621_168248633dup, NC_000003.12:g.168248633_168248634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.168248633_168248634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.168248633_168248634insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.167966410_167966421del, NC_000003.11:g.167966411_167966421del, NC_000003.11:g.167966412_167966421del, NC_000003.11:g.167966413_167966421del, NC_000003.11:g.167966414_167966421del, NC_000003.11:g.167966415_167966421del, NC_000003.11:g.167966416_167966421del, NC_000003.11:g.167966417_167966421del, NC_000003.11:g.167966418_167966421del, NC_000003.11:g.167966419_167966421del, NC_000003.11:g.167966420_167966421del, NC_000003.11:g.167966421del, NC_000003.11:g.167966421dup, NC_000003.11:g.167966420_167966421dup, NC_000003.11:g.167966419_167966421dup, NC_000003.11:g.167966418_167966421dup, NC_000003.11:g.167966417_167966421dup, NC_000003.11:g.167966409_167966421dup, NC_000003.11:g.167966421_167966422insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.167966421_167966422insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.167966421_167966422insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149149221417.

rs1491492214 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG,GGAG [Show Flanks]
Chromosome:: 3:168625111 (GRCh38)
3:168342900 (GRCh37)
Canonical SPDI:: NC_000003.12:168625111:G:GGG,NC_000003.12:168625111:G:GGGAG
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGAG=0./0 (ALFA)
HGVS:: NC_000003.12:g.168625112_168625113insGG, NC_000003.12:g.168625112_168625113insGGAG, NC_000003.11:g.168342900_168342901insGG, NC_000003.11:g.168342900_168342901insGGAG

Select item 149148780518.

rs1491487805 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 3:168303526 (GRCh38)
3:168021314 (GRCh37)
Canonical SPDI:: NC_000003.12:168303516:ATATATATATA:ATATATATA,NC_000003.12:168303516:ATATATATATA:ATATATATATATA,NC_000003.12:168303516:ATATATATATA:ATATATATATATATA
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
AT=0.03079/516 (TOMMO)
AT=0.19672/12 (Vietnamese)
HGVS:: NC_000003.12:g.168303518TA[4], NC_000003.12:g.168303518TA[6], NC_000003.12:g.168303518TA[7], NC_000003.11:g.168021306TA[4], NC_000003.11:g.168021306TA[6], NC_000003.11:g.168021306TA[7]

Select item 149148488119.

rs1491484881 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 3:168248367 (GRCh38)
3:167966156 (GRCh37)
Canonical SPDI:: NC_000003.12:168248367::C,NC_000003.12:168248367::G
Gene:: EGFEM1P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00025/3 (ALFA)
C=0.00007/1 (TOMMO)
C=0.00497/9 (Korea1K)
HGVS:: NC_000003.12:g.168248367_168248368insC, NC_000003.12:g.168248367_168248368insG, NC_000003.11:g.167966155_167966156insC, NC_000003.11:g.167966155_167966156insG

Select item 149148175420.

rs1491481754 has merged into rs892577417 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTC>-,TC [Show Flanks]
Chromosome:: 3:168292050 (GRCh38)
3:168009838 (GRCh37)
Canonical SPDI:: NC_000003.12:168292041:TCTCTCTCTCTC:TCTCTCTC,NC_000003.12:168292041:TCTCTCTCTCTC:TCTCTCTCTC
Gene:: EGFEM1P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTC=0./0 (ALFA)
-=0.00028/5 (TOMMO)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000003.12:g.168292042TC[4], NC_000003.12:g.168292042TC[5], NC_000003.11:g.168009830TC[4], NC_000003.11:g.168009830TC[5]

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