SNP Links for Gene (Select 102723883) - SNP

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Select item 14913332661.

rs1491333266 has merged into rs5877122 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:68055842 (GRCh38)
6:68765734 (GRCh37)
Canonical SPDI:: NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:68055830:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
-=0.4201/2104 (1000Genomes)
HGVS:: NC_000006.12:g.68055842_68055845del, NC_000006.12:g.68055843_68055845del, NC_000006.12:g.68055844_68055845del, NC_000006.12:g.68055845del, NC_000006.12:g.68055845dup, NC_000006.12:g.68055844_68055845dup, NC_000006.12:g.68055843_68055845dup, NC_000006.12:g.68055841_68055845dup, NC_000006.12:g.68055833_68055845dup, NC_000006.12:g.68055832_68055845dup, NC_000006.12:g.68055831_68055845dup, NC_000006.12:g.68055845_68055846insAAAAAAAAAAAAAAAA, NC_000006.11:g.68765734_68765737del, NC_000006.11:g.68765735_68765737del, NC_000006.11:g.68765736_68765737del, NC_000006.11:g.68765737del, NC_000006.11:g.68765737dup, NC_000006.11:g.68765736_68765737dup, NC_000006.11:g.68765735_68765737dup, NC_000006.11:g.68765733_68765737dup, NC_000006.11:g.68765725_68765737dup, NC_000006.11:g.68765724_68765737dup, NC_000006.11:g.68765723_68765737dup, NC_000006.11:g.68765737_68765738insAAAAAAAAAAAAAAAA

Select item 14910108992.

rs1491010899 has merged into rs71536434 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 6:68060987 (GRCh38)
6:68770879 (GRCh37)
Canonical SPDI:: NC_000006.12:68060975:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000006.12:68060975:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: LOC102723883 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0.03376/547 (ALFA)
HGVS:: NC_000006.12:g.68060977GA[5], NC_000006.12:g.68060977GA[7], NC_000006.11:g.68770869GA[5], NC_000006.11:g.68770869GA[7]

Select item 14904079203.

rs1490407920 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:68056953 (GRCh38)
6:68766845 (GRCh37)
Canonical SPDI:: NC_000006.12:68056952:T:C
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.68056953T>C, NC_000006.11:g.68766845T>C

Select item 14902436814.

rs1490243681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:68056568 (GRCh38)
6:68766460 (GRCh37)
Canonical SPDI:: NC_000006.12:68056567:G:A
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.68056568G>A, NC_000006.11:g.68766460G>A

Select item 14895571495.

rs1489557149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:68060106 (GRCh38)
6:68769998 (GRCh37)
Canonical SPDI:: NC_000006.12:68060105:C:A
Gene:: LOC102723883 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000006.12:g.68060106C>A, NC_000006.11:g.68769998C>A, NR_125869.1:n.96C>A

Select item 14895439076.

rs1489543907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:68059692 (GRCh38)
6:68769584 (GRCh37)
Canonical SPDI:: NC_000006.12:68059691:A:T
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.68059692A>T, NC_000006.11:g.68769584A>T

Select item 14892772397.

rs1489277239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:68055972 (GRCh38)
6:68765864 (GRCh37)
Canonical SPDI:: NC_000006.12:68055971:G:A
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.68055972G>A, NC_000006.11:g.68765864G>A

Select item 14886500748.

rs1488650074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:68054297 (GRCh38)
6:68764189 (GRCh37)
Canonical SPDI:: NC_000006.12:68054296:A:C
Gene:: LOC102723883 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.68054297A>C, NC_000006.11:g.68764189A>C

Select item 14885880429.

rs1488588042 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:68053520 (GRCh38)
6:68763412 (GRCh37)
Canonical SPDI:: NC_000006.12:68053519:T:C
Gene:: LOC102723883 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.68053520T>C, NC_000006.11:g.68763412T>C

Select item 148845875910.

rs1488458759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:68058320 (GRCh38)
6:68768212 (GRCh37)
Canonical SPDI:: NC_000006.12:68058319:A:G
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.68058320A>G, NC_000006.11:g.68768212A>G

Select item 148741583211.

rs1487415832 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:68057390 (GRCh38)
6:68767282 (GRCh37)
Canonical SPDI:: NC_000006.12:68057389:C:G
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.68057390C>G, NC_000006.11:g.68767282C>G

Select item 148624281312.

rs1486242813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:68059953 (GRCh38)
6:68769845 (GRCh37)
Canonical SPDI:: NC_000006.12:68059952:G:A,NC_000006.12:68059952:G:T
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.68059953G>A, NC_000006.12:g.68059953G>T, NC_000006.11:g.68769845G>A, NC_000006.11:g.68769845G>T

Select item 148622900713.

rs1486229007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:68056469 (GRCh38)
6:68766361 (GRCh37)
Canonical SPDI:: NC_000006.12:68056468:T:A,NC_000006.12:68056468:T:C
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.68056469T>A, NC_000006.12:g.68056469T>C, NC_000006.11:g.68766361T>A, NC_000006.11:g.68766361T>C

Select item 148607470914.

rs1486074709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:68054607 (GRCh38)
6:68764499 (GRCh37)
Canonical SPDI:: NC_000006.12:68054606:T:A,NC_000006.12:68054606:T:C
Gene:: LOC102723883 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.68054607T>A, NC_000006.12:g.68054607T>C, NC_000006.11:g.68764499T>A, NC_000006.11:g.68764499T>C

Select item 148515843715.

rs1485158437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:68055858 (GRCh38)
6:68765750 (GRCh37)
Canonical SPDI:: NC_000006.12:68055857:C:A,NC_000006.12:68055857:C:T
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00582/26 (ALFA)
T=0.00072/12 (TOMMO)
T=0.00513/15 (KOREAN)
T=0.0058/26 (Estonian)
HGVS:: NC_000006.12:g.68055858C>A, NC_000006.12:g.68055858C>T, NC_000006.11:g.68765750C>A, NC_000006.11:g.68765750C>T

Select item 148513454216.

rs1485134542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:68057379 (GRCh38)
6:68767271 (GRCh37)
Canonical SPDI:: NC_000006.12:68057378:C:G,NC_000006.12:68057378:C:T
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.68057379C>G, NC_000006.12:g.68057379C>T, NC_000006.11:g.68767271C>G, NC_000006.11:g.68767271C>T

Select item 148415076017.

rs1484150760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:68060371 (GRCh38)
6:68770264 (GRCh37)
Canonical SPDI:: NC_000006.12:68060371:AAA:AAAA
Gene:: LOC102723883 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.68060374dup, NC_000006.11:g.68770266dup, NR_125869.1:n.364dup

Select item 148353345518.

rs1483533455 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:68055846 (GRCh38)
6:68765738 (GRCh37)
Canonical SPDI:: NC_000006.12:68055845:C:
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.68055846del, NC_000006.11:g.68765738del

Select item 148245175719.

rs1482451757 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTAGCAA>- [Show Flanks]
Chromosome:: 6:68054995 (GRCh38)
6:68764887 (GRCh37)
Canonical SPDI:: NC_000006.12:68054991:CAAGTTAGCAA:CAA
Gene:: LOC102723883 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.68054995_68055002del, NC_000006.11:g.68764887_68764894del

Select item 148206067520.

rs1482060675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:68058568 (GRCh38)
6:68768460 (GRCh37)
Canonical SPDI:: NC_000006.12:68058567:T:G
Gene:: LOC102723883 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000006.12:g.68058568T>G, NC_000006.11:g.68768460T>G

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