SNP Links for Gene (Select 100996342) - SNP

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Select item 14915069011.

rs1491506901 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 22:17125440 (GRCh38)
22:17606330 (GRCh37)
Canonical SPDI:: NC_000022.11:17125439:AT:
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000022.11:g.17125440_17125441del, NC_000022.10:g.17606330_17606331del

Select item 14914293232.

rs1491429323 has merged into rs5844289 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTT [Show Flanks]
Chromosome:: 22:17125450 (GRCh38)
22:17606340 (GRCh37)
Canonical SPDI:: NC_000022.11:17125440:TTTTTTTTTTT:TTTTTTTTT,NC_000022.11:17125440:TTTTTTTTTTT:TTTTTTTTTT,NC_000022.11:17125440:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000022.11:17125440:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.18161/806 (Estonian)
-=0.1976/362 (Korea1K)
-=0.22635/134 (NorthernSweden)
-=0.34046/1705 (1000Genomes)
HGVS:: NC_000022.11:g.17125450_17125451del, NC_000022.11:g.17125451del, NC_000022.11:g.17125451dup, NC_000022.11:g.17125449_17125451dup, NC_000022.10:g.17606340_17606341del, NC_000022.10:g.17606341del, NC_000022.10:g.17606341dup, NC_000022.10:g.17606339_17606341dup

Select item 14913705173.

rs1491370517 has merged into rs869071355 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAAAAACTAGTCAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:17129691 (GRCh38)
22:17610581 (GRCh37)
Canonical SPDI:: NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:17129683:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAACTAGTCAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000022.11:g.17129691_17129704del, NC_000022.11:g.17129694_17129704del, NC_000022.11:g.17129695_17129704del, NC_000022.11:g.17129697_17129704del, NC_000022.11:g.17129700_17129704del, NC_000022.11:g.17129701_17129704del, NC_000022.11:g.17129702_17129704del, NC_000022.11:g.17129703_17129704del, NC_000022.11:g.17129704del, NC_000022.11:g.17129704dup, NC_000022.11:g.17129703_17129704dup, NC_000022.11:g.17129702_17129704dup, NC_000022.11:g.17129701_17129704dup, NC_000022.11:g.17129699_17129704dup, NC_000022.11:g.17129698_17129704dup, NC_000022.11:g.17129697_17129704dup, NC_000022.11:g.17129696_17129704dup, NC_000022.11:g.17129694_17129704dup, NC_000022.11:g.17129693_17129704dup, NC_000022.11:g.17129692_17129704dup, NC_000022.11:g.17129691_17129704dup, NC_000022.11:g.17129690_17129704dup, NC_000022.11:g.17129689_17129704dup, NC_000022.11:g.17129685_17129704dup, NC_000022.11:g.17129684_17129704dup, NC_000022.11:g.17129704_17129705insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.17129704_17129705insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.11:g.17129684_17129704A[22]GAAAAAAAAAAAAAACTAGTCAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000022.10:g.17610581_17610594del, NC_000022.10:g.17610584_17610594del, NC_000022.10:g.17610585_17610594del, NC_000022.10:g.17610587_17610594del, NC_000022.10:g.17610590_17610594del, NC_000022.10:g.17610591_17610594del, NC_000022.10:g.17610592_17610594del, NC_000022.10:g.17610593_17610594del, NC_000022.10:g.17610594del, NC_000022.10:g.17610594dup, NC_000022.10:g.17610593_17610594dup, NC_000022.10:g.17610592_17610594dup, NC_000022.10:g.17610591_17610594dup, NC_000022.10:g.17610589_17610594dup, NC_000022.10:g.17610588_17610594dup, NC_000022.10:g.17610587_17610594dup, NC_000022.10:g.17610586_17610594dup, NC_000022.10:g.17610584_17610594dup, NC_000022.10:g.17610583_17610594dup, NC_000022.10:g.17610582_17610594dup, NC_000022.10:g.17610581_17610594dup, NC_000022.10:g.17610580_17610594dup, NC_000022.10:g.17610579_17610594dup, NC_000022.10:g.17610575_17610594dup, NC_000022.10:g.17610574_17610594dup, NC_000022.10:g.17610594_17610595insAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.17610594_17610595insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000022.10:g.17610574_17610594A[22]GAAAAAAAAAAAAAACTAGTCAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14912476564.

rs1491247656 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 22:17129683 (GRCh38)
22:17610573 (GRCh37)
Canonical SPDI:: NC_000022.11:17129682:CA:
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00143/17 (ALFA)
-=0.00047/23 (GnomAD)
HGVS:: NC_000022.11:g.17129683_17129684del, NC_000022.10:g.17610573_17610574del

Select item 14910450055.

rs1491045005 has merged into rs112459721 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:17131412 (GRCh38)
22:17612302 (GRCh37)
Canonical SPDI:: NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:17131402:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.202476/1014 (1000Genomes)
A=0.225/9 (GENOME_DK)
HGVS:: NC_000022.11:g.17131412_17131416del, NC_000022.11:g.17131414_17131416del, NC_000022.11:g.17131415_17131416del, NC_000022.11:g.17131416del, NC_000022.11:g.17131416dup, NC_000022.11:g.17131415_17131416dup, NC_000022.11:g.17131414_17131416dup, NC_000022.11:g.17131409_17131416dup, NC_000022.10:g.17612302_17612306del, NC_000022.10:g.17612304_17612306del, NC_000022.10:g.17612305_17612306del, NC_000022.10:g.17612306del, NC_000022.10:g.17612306dup, NC_000022.10:g.17612305_17612306dup, NC_000022.10:g.17612304_17612306dup, NC_000022.10:g.17612299_17612306dup

Select item 14908077876.

rs1490807787 has merged into rs533902395 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGGGGCGGGG>-,CGGGG,CGGGGCGGGGCGGGG,CGGGGCGGGGCGGGGCGGGG,CGGGGCGGGGCGGGGCGGGGCGGGG [Show Flanks]
Chromosome:: 22:17121385 (GRCh38)
22:17602275 (GRCh37)
Canonical SPDI:: NC_000022.11:17121370:GGGGCGGGGCGGGGCGGGGCGGGG:GGGGCGGGGCGGGG,NC_000022.11:17121370:GGGGCGGGGCGGGGCGGGGCGGGG:GGGGCGGGGCGGGGCGGGG,NC_000022.11:17121370:GGGGCGGGGCGGGGCGGGGCGGGG:GGGGCGGGGCGGGGCGGGGCGGGGCGGGG,NC_000022.11:17121370:GGGGCGGGGCGGGGCGGGGCGGGG:GGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG,NC_000022.11:17121370:GGGGCGGGGCGGGGCGGGGCGGGG:GGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGG
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGCGGGGCGGGGCGGGGCGGGGCGGGG=0./0 (ALFA)
GGGGCGGGGC=0./0 (GENOME_DK)
-=0.000616/163 (TOPMED)
-=0.005/3 (NorthernSweden)
-=0.048922/245 (1000Genomes)
HGVS:: NC_000022.11:g.17121375CGGGG[2], NC_000022.11:g.17121375CGGGG[3], NC_000022.11:g.17121375CGGGG[5], NC_000022.11:g.17121375CGGGG[6], NC_000022.11:g.17121375CGGGG[7], NC_000022.10:g.17602265CGGGG[2], NC_000022.10:g.17602265CGGGG[3], NC_000022.10:g.17602265CGGGG[5], NC_000022.10:g.17602265CGGGG[6], NC_000022.10:g.17602265CGGGG[7]

Select item 14907565027.

rs1490756502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:17122190 (GRCh38)
22:17603081 (GRCh37)
Canonical SPDI:: NC_000022.11:17122190:GGG:GGGG
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.17122193dup, NC_000022.10:g.17603083dup

Select item 14907004608.

rs1490700460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:17122290 (GRCh38)
22:17603180 (GRCh37)
Canonical SPDI:: NC_000022.11:17122289:G:A,NC_000022.11:17122289:G:T
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.17122290G>A, NC_000022.11:g.17122290G>T, NC_000022.10:g.17603180G>A, NC_000022.10:g.17603180G>T

Select item 14905478629.

rs1490547862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:17130607 (GRCh38)
22:17611497 (GRCh37)
Canonical SPDI:: NC_000022.11:17130606:T:C
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.17130607T>C, NC_000022.10:g.17611497T>C

Select item 149033526910.

rs1490335269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:17130980 (GRCh38)
22:17611870 (GRCh37)
Canonical SPDI:: NC_000022.11:17130979:C:T
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.001807/51 (TOMMO)
HGVS:: NC_000022.11:g.17130980C>T, NC_000022.10:g.17611870C>T

Select item 149014209611.

rs1490142096 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGCTG [Show Flanks]
Chromosome:: 22:17120985 (GRCh38)
22:17601876 (GRCh37)
Canonical SPDI:: NC_000022.11:17120985:TGCTGCTG:TGCTGCTGCTGCTG
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: inframe_insertion,intron_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: TGCTGC=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.17120988CTG[4], NC_000022.10:g.17601878CTG[4], NM_031890.4:c.137GCA[4], NM_031890.3:c.137GCA[4], XM_011546124.3:c.137GCA[4], XM_011546124.2:c.137GCA[4], XM_011546124.1:c.137GCA[4], NP_114096.1:p.Ser46_Ser47dup, XP_011544426.1:p.Ser46_Ser47dup

Select item 148975191612.

rs1489751916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:17123187 (GRCh38)
22:17604077 (GRCh37)
Canonical SPDI:: NC_000022.11:17123186:C:G,NC_000022.11:17123186:C:T
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.17123187C>G, NC_000022.11:g.17123187C>T, NC_000022.10:g.17604077C>G, NC_000022.10:g.17604077C>T

Select item 148948327013.

rs1489483270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:17127535 (GRCh38)
22:17608425 (GRCh37)
Canonical SPDI:: NC_000022.11:17127534:G:A,NC_000022.11:17127534:G:C
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.17127535G>A, NC_000022.11:g.17127535G>C, NC_000022.10:g.17608425G>A, NC_000022.10:g.17608425G>C

Select item 148945873914.

rs1489458739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:17120662 (GRCh38)
22:17601552 (GRCh37)
Canonical SPDI:: NC_000022.11:17120661:C:G
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.17120662C>G, NC_000022.10:g.17601552C>G, NM_031890.4:c.466G>C, NM_031890.3:c.466G>C, XM_011546124.3:c.466G>C, XM_011546124.2:c.466G>C, XM_011546124.1:c.466G>C, NP_114096.1:p.Gly156Arg, XP_011544426.1:p.Gly156Arg

Select item 148942836915.

rs1489428369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:17122019 (GRCh38)
22:17602909 (GRCh37)
Canonical SPDI:: NC_000022.11:17122018:G:C
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.17122019G>C, NC_000022.10:g.17602909G>C, NR_103793.1:n.425G>C

Select item 148933283516.

rs1489332835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:17126411 (GRCh38)
22:17607301 (GRCh37)
Canonical SPDI:: NC_000022.11:17126410:G:A
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000347/5 (ALFA)
A=0.000165/23 (GnomAD)
A=0.000174/46 (TOPMED)
HGVS:: NC_000022.11:g.17126411G>A, NC_000022.10:g.17607301G>A

Select item 148892016317.

rs1488920163 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 22:17131694 (GRCh38)
22:17612585 (GRCh37)
Canonical SPDI:: NC_000022.11:17131694:TT:TTT
Gene:: LINC01664 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000022.11:g.17131696dup, NC_000022.10:g.17612586dup, NR_103793.1:n.767dup

Select item 148833931818.

rs1488339318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:17129990 (GRCh38)
22:17610880 (GRCh37)
Canonical SPDI:: NC_000022.11:17129989:C:T
Gene:: LINC01664 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000035/1 (TOMMO)
T=0.000036/5 (GnomAD)
HGVS:: NC_000022.11:g.17129990C>T, NC_000022.10:g.17610880C>T

Select item 148823342419.

rs1488233424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:17121339 (GRCh38)
22:17602229 (GRCh37)
Canonical SPDI:: NC_000022.11:17121338:C:A
Gene:: TMEM121B (Varview), LINC01664 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000447/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000022.11:g.17121339C>A, NC_000022.10:g.17602229C>A, NM_031890.4:c.-212G>T, NM_001163079.2:c.-169G>T, NM_001163079.1:c.-169G>T

Select item 148810926520.

rs1488109265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:17125721 (GRCh38)
22:17606611 (GRCh37)
Canonical SPDI:: NC_000022.11:17125720:G:A
Gene:: LINC01664 (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_000022.11:g.17125721G>A, NC_000022.10:g.17606611G>A

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