SNP Links for Gene (Select 728339) - SNP

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Select item 14915766191.

rs1491576619 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGGGG [Show Flanks]
Chromosome:: 4:189799120 (GRCh38)
4:190720275 (GRCh37)
Canonical SPDI:: NC_000004.12:189799120:GGGGG:GGGGGAGGGGG
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGAGGGGG=0.00008/1 (ALFA)
GGGGGA=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.189799121_189799125G[5]AGGGGG[1], NC_000004.11:g.190720275_190720279G[5]AGGGGG[1], NT_187679.1:g.447850_447854G[5]AGGGGG[1], NT_187650.1:g.132674_132678G[5]AGGGGG[1], NT_187543.1:g.132674_132678G[5]AGGGGG[1]

Select item 14915617522.

rs1491561752 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:189835996 (GRCh38)
4:190757151 (GRCh37)
Canonical SPDI:: NC_000004.12:189835995:TA:
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00699/46 (TOMMO)
HGVS:: NC_000004.12:g.189835996_189835997del, NC_000004.11:g.190757151_190757152del, NT_187679.1:g.484725_484726del, NT_187650.1:g.169523_169524del, NT_187543.1:g.169522_169523del

Select item 14915188343.

rs1491518834 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAC [Show Flanks]
Chromosome:: 4:189808146 (GRCh38)
4:190729301 (GRCh37)
Canonical SPDI:: NC_000004.12:189808146:TAC:TACGTAC
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TACGTAC=0.000372/6 (ALFA)
TACG=0.000004/1 (TOPMED)
TACG=0.000053/5 (GnomAD)
HGVS:: NC_000004.12:g.189808149_189808150insGTAC, NC_000004.11:g.190729303_190729304insGTAC, NT_187679.1:g.456878_456879insGTAC, NT_187650.1:g.141702_141703insGTAC, NT_187543.1:g.141702_141703insGTAC

Select item 14915044394.

rs1491504439 has merged into rs1373429123 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC,ACACAC [Show Flanks]
Chromosome:: 4:189836401 (GRCh38)
4:190757556 (GRCh37)
Canonical SPDI:: NC_000004.12:189836394:ACACACAC:ACACAC,NC_000004.12:189836394:ACACACAC:ACACACACAC,NC_000004.12:189836394:ACACACAC:ACACACACACAC
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACACACACAC=0./0 (ALFA)
HGVS:: NC_000004.12:g.189836395AC[3], NC_000004.12:g.189836395AC[5], NC_000004.12:g.189836395AC[6], NC_000004.11:g.190757550AC[3], NC_000004.11:g.190757550AC[5], NC_000004.11:g.190757550AC[6], NT_187679.1:g.485124AC[3], NT_187679.1:g.485124AC[5], NT_187679.1:g.485124AC[6], NT_187650.1:g.169931AC[3], NT_187650.1:g.169931AC[5], NT_187650.1:g.169931AC[6], NT_187543.1:g.169921AC[3], NT_187543.1:g.169921AC[5], NT_187543.1:g.169921AC[6]

Select item 14914909995.

rs1491490999 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 4:189898012 (GRCh38)
4:190819168 (GRCh37)
Canonical SPDI:: NC_000004.12:189898012::C,NC_000004.12:189898012::G
Gene:: FRG1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.00003/1 (GnomAD)
HGVS:: NC_000004.12:g.189898012_189898013insC, NC_000004.12:g.189898012_189898013insG, NC_000004.11:g.190819167_190819168insC, NC_000004.11:g.190819167_190819168insG, NT_187679.1:g.546741_546742insC, NT_187679.1:g.546741_546742insG, NT_187650.1:g.235521_235522insC, NT_187650.1:g.235521_235522insG, NT_187543.1:g.235038_235039insC, NT_187543.1:g.235038_235039insG

Select item 14914885386.

rs1491488538 has merged into rs898885064 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC [Show Flanks]
Chromosome:: 4:189787357 (GRCh38)
4:190708511 (GRCh37)
Canonical SPDI:: NC_000004.12:189787347:CACACACACACAC:CACACACAC,NC_000004.12:189787347:CACACACACACAC:CACACACACAC,NC_000004.12:189787347:CACACACACACAC:CACACACACACACAC
Gene:: FRG1-DT (Varview), LOC124900882 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACAC=0./0 (ALFA)
CA=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.189787349AC[4], NC_000004.12:g.189787349AC[5], NC_000004.12:g.189787349AC[7], NC_000004.11:g.190708503AC[4], NC_000004.11:g.190708503AC[5], NC_000004.11:g.190708503AC[7], NT_187679.1:g.436078AC[4], NT_187679.1:g.436078AC[5], NT_187679.1:g.436078AC[7], NT_187650.1:g.120902AC[4], NT_187650.1:g.120902AC[5], NT_187650.1:g.120902AC[7], NT_187543.1:g.120902AC[4], NT_187543.1:g.120902AC[5], NT_187543.1:g.120902AC[7]

Select item 14914788357.

rs1491478835 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:189836994 (GRCh38)
4:190758149 (GRCh37)
Canonical SPDI:: NC_000004.12:189836993:TA:
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.189836994_189836995del, NC_000004.11:g.190758149_190758150del, NT_187679.1:g.485723_485724del, NT_187650.1:g.170556_170557del, NT_187543.1:g.170526_170527del

Select item 14914662778.

rs1491466277 has merged into rs1360778557 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 4:189837001 (GRCh38)
4:190758156 (GRCh37)
Canonical SPDI:: NC_000004.12:189836994:ACACACAC:ACACAC,NC_000004.12:189836994:ACACACAC:ACACACACAC
Gene:: FRG1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACACACACAC=0./0 (ALFA)
HGVS:: NC_000004.12:g.189836995AC[3], NC_000004.12:g.189836995AC[5], NC_000004.11:g.190758150AC[3], NC_000004.11:g.190758150AC[5], NT_187679.1:g.485724AC[3], NT_187679.1:g.485724AC[5]

Select item 14914659469.

rs1491465946 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:189931496 (GRCh38)
4:190852651 (GRCh37)
Canonical SPDI:: NC_000004.12:189931495:CT:
Gene:: FRG1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000057/15 (TOPMED)
-=0.000071/1 (TOMMO)
-=0.000071/10 (GnomAD)
HGVS:: NC_000004.12:g.189931496_189931497del, NC_000004.11:g.190852651_190852652del, NT_187650.1:g.269026_269027del, NW_015495300.1:g.24426_24427del, NW_015495301.1:g.24426_24427del, NW_003571034.1:g.24426_24427del

Select item 149143760010.

rs1491437600 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:189881413 (GRCh38)
4:190802568 (GRCh37)
Canonical SPDI:: NC_000004.12:189881412:CA:
Gene:: FRG1-DT (Varview), LINC01596 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.00015/2 (TOMMO)
-=0.00029/27 (GnomAD)
HGVS:: NC_000004.12:g.189881413_189881414del, NC_000004.11:g.190802568_190802569del, NG_083600.1:g.485_486del, NT_187679.1:g.530142_530143del, NT_187543.1:g.218439_218440del, NT_187650.1:g.218921_218922del

Select item 149143606411.

rs1491436064 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TA [Show Flanks]
Chromosome:: 4:189837381 (GRCh38)
4:190758537 (GRCh37)
Canonical SPDI:: NC_000004.12:189837381::T,NC_000004.12:189837381::TA
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
HGVS:: NC_000004.12:g.189837381_189837382insT, NC_000004.12:g.189837381_189837382insTA, NC_000004.11:g.190758536_190758537insT, NC_000004.11:g.190758536_190758537insTA, NT_187679.1:g.486110_486111insT, NT_187679.1:g.486110_486111insTA, NT_187650.1:g.170963dup, NT_187650.1:g.170963_170964dup, NT_187543.1:g.170929_170930insT, NT_187543.1:g.170929_170930insTA

Select item 149142258212.

rs1491422582 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:189845114 (GRCh38)
4:190766269 (GRCh37)
Canonical SPDI:: NC_000004.12:189845112:TTT:T
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.015213/68 (ALFA)
-=0.014011/1964 (GnomAD)
-=0.015402/69 (Estonian)
-=0.033333/20 (NorthernSweden)
HGVS:: NC_000004.12:g.189845114_189845115del, NC_000004.11:g.190766269_190766270del, NT_187679.1:g.493843_493844del, NT_187650.1:g.179946_179947del, NT_187543.1:g.180410_180411del

Select item 149141590113.

rs1491415901 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:189814801 (GRCh38)
4:190735955 (GRCh37)
Canonical SPDI:: NC_000004.12:189814800:TA:
Gene:: FRG1-DT (Varview), LOC105377619 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.0073/28 (ALSPAC)
-=0.0076/28 (TWINSUK)
HGVS:: NC_000004.12:g.189814801_189814802del, NC_000004.11:g.190735955_190735956del, NT_187679.1:g.463530_463531del, NT_187543.1:g.148354_148355del

Select item 149140942614.

rs1491409426 has merged into rs375869367 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 4:189894797 (GRCh38)
4:190815952 (GRCh37)
Canonical SPDI:: NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000004.12:189894784:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: FRG1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000004.12:g.189894785GT[6], NC_000004.12:g.189894785GT[8], NC_000004.12:g.189894785GT[9], NC_000004.12:g.189894785GT[10], NC_000004.12:g.189894785GT[11], NC_000004.12:g.189894785GT[12], NC_000004.12:g.189894785GT[13], NC_000004.12:g.189894785GT[14], NC_000004.12:g.189894785GT[15], NC_000004.12:g.189894785GT[16], NC_000004.12:g.189894785GT[17], NC_000004.12:g.189894785GT[18], NC_000004.12:g.189894785GT[20], NC_000004.12:g.189894785GT[21], NC_000004.12:g.189894785GT[22], NC_000004.12:g.189894785GT[23], NC_000004.12:g.189894785GT[24], NC_000004.12:g.189894785GT[25], NC_000004.12:g.189894785GT[26], NC_000004.12:g.189894785GT[27], NC_000004.12:g.189894785GT[28], NC_000004.12:g.189894785GT[29], NC_000004.12:g.189894785GT[30], NC_000004.11:g.190815940GT[6], NC_000004.11:g.190815940GT[8], NC_000004.11:g.190815940GT[9], NC_000004.11:g.190815940GT[10], NC_000004.11:g.190815940GT[11], NC_000004.11:g.190815940GT[12], NC_000004.11:g.190815940GT[13], NC_000004.11:g.190815940GT[14], NC_000004.11:g.190815940GT[15], NC_000004.11:g.190815940GT[16], NC_000004.11:g.190815940GT[17], NC_000004.11:g.190815940GT[18], NC_000004.11:g.190815940GT[20], NC_000004.11:g.190815940GT[21], NC_000004.11:g.190815940GT[22], NC_000004.11:g.190815940GT[23], NC_000004.11:g.190815940GT[24], NC_000004.11:g.190815940GT[25], NC_000004.11:g.190815940GT[26], NC_000004.11:g.190815940GT[27], NC_000004.11:g.190815940GT[28], NC_000004.11:g.190815940GT[29], NC_000004.11:g.190815940GT[30], NT_187679.1:g.543514GT[6], NT_187679.1:g.543514GT[8], NT_187679.1:g.543514GT[9], NT_187679.1:g.543514GT[10], NT_187679.1:g.543514GT[11], NT_187679.1:g.543514GT[12], NT_187679.1:g.543514GT[13], NT_187679.1:g.543514GT[14], NT_187679.1:g.543514GT[15], NT_187679.1:g.543514GT[16], NT_187679.1:g.543514GT[17], NT_187679.1:g.543514GT[18], NT_187679.1:g.543514GT[20], NT_187679.1:g.543514GT[21], NT_187679.1:g.543514GT[22], NT_187679.1:g.543514GT[23], NT_187679.1:g.543514GT[24], NT_187679.1:g.543514GT[25], NT_187679.1:g.543514GT[26], NT_187679.1:g.543514GT[27], NT_187679.1:g.543514GT[28], NT_187679.1:g.543514GT[29], NT_187679.1:g.543514GT[30], NT_187650.1:g.232284GT[11], NT_187650.1:g.232284GT[13], NT_187650.1:g.232284GT[14], NT_187650.1:g.232284GT[15], NT_187650.1:g.232284GT[16], NT_187650.1:g.232284GT[17], NT_187650.1:g.232284GT[18], NT_187650.1:g.232284GT[19], NT_187650.1:g.232284GT[20], NT_187650.1:g.232284GT[21], NT_187650.1:g.232284GT[22], NT_187650.1:g.232284GT[23], NT_187650.1:g.232284GT[25], NT_187650.1:g.232284GT[26], NT_187650.1:g.232284GT[27], NT_187650.1:g.232284GT[28], NT_187650.1:g.232284GT[29], NT_187650.1:g.232284GT[30], NT_187650.1:g.232284GT[31], NT_187650.1:g.232284GT[32], NT_187650.1:g.232284GT[33], NT_187650.1:g.232284GT[34], NT_187650.1:g.232284GT[35], NT_187543.1:g.231811GT[6], NT_187543.1:g.231811GT[8], NT_187543.1:g.231811GT[9], NT_187543.1:g.231811GT[10], NT_187543.1:g.231811GT[11], NT_187543.1:g.231811GT[12], NT_187543.1:g.231811GT[13], NT_187543.1:g.231811GT[14], NT_187543.1:g.231811GT[15], NT_187543.1:g.231811GT[16], NT_187543.1:g.231811GT[17], NT_187543.1:g.231811GT[18], NT_187543.1:g.231811GT[20], NT_187543.1:g.231811GT[21], NT_187543.1:g.231811GT[22], NT_187543.1:g.231811GT[23], NT_187543.1:g.231811GT[24], NT_187543.1:g.231811GT[25], NT_187543.1:g.231811GT[26], NT_187543.1:g.231811GT[27], NT_187543.1:g.231811GT[28], NT_187543.1:g.231811GT[29], NT_187543.1:g.231811GT[30]

Select item 149140278315.

rs1491402783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 4:189790833 (GRCh38)
4:190711987 (GRCh37)
Canonical SPDI:: NC_000004.12:189790829:CACAC:CAC
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAC=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.189790831AC[1], NC_000004.11:g.190711985AC[1], NT_187679.1:g.439560AC[1], NT_187650.1:g.124384AC[1], NT_187543.1:g.124384AC[1]

Select item 149139806016.

rs1491398060 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:189787239 (GRCh38)
4:190708393 (GRCh37)
Canonical SPDI:: NC_000004.12:189787238:AA:
Gene:: FRG1-DT (Varview), LOC124900882 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.189787239_189787240del, NC_000004.11:g.190708393_190708394del, NT_187679.1:g.435968_435969del, NT_187650.1:g.120792_120793del, NT_187543.1:g.120792_120793del

Select item 149138607917.

rs1491386079 has merged into rs1293793084 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 4:189836472 (GRCh38)
4:190757627 (GRCh37)
Canonical SPDI:: NC_000004.12:189836465:ACACACAC:ACACAC,NC_000004.12:189836465:ACACACAC:ACACACACAC
Gene:: FRG1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACAC=0./0 (ALFA)
HGVS:: NC_000004.12:g.189836466AC[3], NC_000004.12:g.189836466AC[5], NC_000004.11:g.190757621AC[3], NC_000004.11:g.190757621AC[5], NT_187679.1:g.485195AC[3], NT_187679.1:g.485195AC[5], NT_187650.1:g.170005AC[3], NT_187650.1:g.170005AC[5], NT_187543.1:g.169989AC[3], NT_187543.1:g.169989AC[5]

Select item 149138455618.

rs1491384556 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:189825518 (GRCh38)
4:190746672 (GRCh37)
Canonical SPDI:: NC_000004.12:189825517:CA:
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00093/11 (ALFA)
HGVS:: NC_000004.12:g.189825518_189825519del, NC_000004.11:g.190746672_190746673del, NT_187679.1:g.474247_474248del, NT_187650.1:g.159096dup, NT_187650.1:g.159072del, NT_187543.1:g.159071_159072del

Select item 149137981519.

rs1491379815 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:189898007 (GRCh38)
4:190819162 (GRCh37)
Canonical SPDI:: NC_000004.12:189898005:AGA:A
Gene:: FRG1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.189898007_189898008del, NC_000004.11:g.190819162_190819163del, NT_187679.1:g.546736_546737del, NT_187650.1:g.235516_235517del, NT_187543.1:g.235033_235034del

Select item 149137318120.

rs1491373181 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:189846867 (GRCh38)
4:190768022 (GRCh37)
Canonical SPDI:: NC_000004.12:189846866:CA:
Gene:: FRG1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00029/8 (TOMMO)
HGVS:: NC_000004.12:g.189846867_189846868del, NC_000004.11:g.190768022_190768023del, NT_187679.1:g.495596_495597del, NT_187650.1:g.181702_181703del, NT_187543.1:g.182160T>C, NT_187543.1:g.182161_182162del

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