SNP Links for Gene (Select 10120) - SNP

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Select item 14914731331.

rs1491473133 has merged into rs67429887 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 2:97665713 (GRCh38)
2:98282176 (GRCh37)
Canonical SPDI:: NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:97665692:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: ACTR1B (Varview), C2orf92 (Varview), LOC124900516 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.97665693CT[10], NC_000002.12:g.97665693CT[11], NC_000002.12:g.97665693CT[12], NC_000002.12:g.97665693CT[13], NC_000002.12:g.97665693CT[14], NC_000002.12:g.97665693CT[15], NC_000002.12:g.97665693CT[16], NC_000002.12:g.97665693CT[17], NC_000002.12:g.97665693CT[18], NC_000002.12:g.97665693CT[19], NC_000002.12:g.97665693CT[20], NC_000002.12:g.97665693CT[21], NC_000002.12:g.97665693CT[22], NC_000002.12:g.97665693CT[24], NC_000002.12:g.97665693CT[25], NC_000002.12:g.97665693CT[26], NC_000002.12:g.97665693CT[27], NC_000002.11:g.98282156CT[10], NC_000002.11:g.98282156CT[11], NC_000002.11:g.98282156CT[12], NC_000002.11:g.98282156CT[13], NC_000002.11:g.98282156CT[14], NC_000002.11:g.98282156CT[15], NC_000002.11:g.98282156CT[16], NC_000002.11:g.98282156CT[17], NC_000002.11:g.98282156CT[18], NC_000002.11:g.98282156CT[19], NC_000002.11:g.98282156CT[20], NC_000002.11:g.98282156CT[21], NC_000002.11:g.98282156CT[22], NC_000002.11:g.98282156CT[24], NC_000002.11:g.98282156CT[25], NC_000002.11:g.98282156CT[26], NC_000002.11:g.98282156CT[27], NW_025791765.1:g.591724CT[10], NW_025791765.1:g.591724CT[11], NW_025791765.1:g.591724CT[12], NW_025791765.1:g.591724CT[13], NW_025791765.1:g.591724CT[14], NW_025791765.1:g.591724CT[15], NW_025791765.1:g.591724CT[16], NW_025791765.1:g.591724CT[17], NW_025791765.1:g.591724CT[18], NW_025791765.1:g.591724CT[19], NW_025791765.1:g.591724CT[20], NW_025791765.1:g.591724CT[21], NW_025791765.1:g.591724CT[22], NW_025791765.1:g.591724CT[24], NW_025791765.1:g.591724CT[25], NW_025791765.1:g.591724CT[26], NW_025791765.1:g.591724CT[27]

Select item 14913267152.

rs1491326715 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:97665692 (GRCh38)
2:98282155 (GRCh37)
Canonical SPDI:: NC_000002.12:97665691:AC:
Gene:: ACTR1B (Varview), C2orf92 (Varview), LOC124900516 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00326/54 (TOMMO)
HGVS:: NC_000002.12:g.97665692_97665693del, NC_000002.11:g.98282155_98282156del, NW_025791765.1:g.591723_591724del

Select item 14910740013.

rs1491074001 has merged into rs545069324 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:97662415 (GRCh38)
2:98278878 (GRCh37)
Canonical SPDI:: NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:97662404:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: ACTR1B (Varview), C2orf92 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000034/9 (TOPMED)
T=0.011706/7 (NorthernSweden)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000002.12:g.97662415_97662419del, NC_000002.12:g.97662416_97662419del, NC_000002.12:g.97662417_97662419del, NC_000002.12:g.97662418_97662419del, NC_000002.12:g.97662419del, NC_000002.12:g.97662419dup, NC_000002.12:g.97662418_97662419dup, NC_000002.12:g.97662417_97662419dup, NC_000002.11:g.98278878_98278882del, NC_000002.11:g.98278879_98278882del, NC_000002.11:g.98278880_98278882del, NC_000002.11:g.98278881_98278882del, NC_000002.11:g.98278882del, NC_000002.11:g.98278882dup, NC_000002.11:g.98278881_98278882dup, NC_000002.11:g.98278880_98278882dup, NW_025791765.1:g.588446_588450del, NW_025791765.1:g.588447_588450del, NW_025791765.1:g.588448_588450del, NW_025791765.1:g.588449_588450del, NW_025791765.1:g.588450del, NW_025791765.1:g.588450dup, NW_025791765.1:g.588449_588450dup, NW_025791765.1:g.588448_588450dup

Select item 14907848804.

rs1490784880 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAAG>- [Show Flanks]
Chromosome:: 2:97655487 (GRCh38)
2:98271950 (GRCh37)
Canonical SPDI:: NC_000002.12:97655482:AAAGTAAAG:AAAG
Gene:: ACTR1B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.97655487_97655491del, NC_000002.11:g.98271950_98271954del, NW_025791765.1:g.581518_581522del

Select item 14907716455.

rs1490771645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:97656380 (GRCh38)
2:98272843 (GRCh37)
Canonical SPDI:: NC_000002.12:97656379:G:A
Gene:: ACTR1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.97656380G>A, NC_000002.11:g.98272843G>A, NW_025791765.1:g.582411G>A, XM_005263854.6:c.*478C>T, XM_005263854.5:c.*478C>T, XM_005263854.4:c.*478C>T, XM_005263854.3:c.*478C>T, XM_005263854.2:c.*478C>T, XM_005263854.1:c.*478C>T, NM_005735.4:c.*478C>T, NM_005735.3:c.*478C>T, XM_017003116.2:c.*478C>T, XM_017003116.1:c.*478C>T

Select item 14900847256.

rs1490084725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:97662856 (GRCh38)
2:98279319 (GRCh37)
Canonical SPDI:: NC_000002.12:97662855:G:T
Gene:: ACTR1B (Varview), C2orf92 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.97662856G>T, NC_000002.11:g.98279319G>T, NW_025791765.1:g.588887G>T

Select item 14900355837.

rs1490035583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:97658936 (GRCh38)
2:98275399 (GRCh37)
Canonical SPDI:: NC_000002.12:97658935:A:G
Gene:: ACTR1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.97658936A>G, NC_000002.11:g.98275399A>G, NW_025791765.1:g.584967A>G, XM_005263854.6:c.161T>C, XM_005263854.5:c.161T>C, XM_005263854.4:c.161T>C, XM_005263854.3:c.161T>C, XM_005263854.2:c.161T>C, XM_005263854.1:c.161T>C, NM_005735.4:c.383T>C, NM_005735.3:c.383T>C, XM_017003116.2:c.251T>C, XM_017003116.1:c.251T>C, XP_005263911.1:p.Phe54Ser, NP_005726.1:p.Phe128Ser, XP_016858605.1:p.Phe84Ser

Select item 14897969818.

rs1489796981 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:97655569 (GRCh38)
2:98272032 (GRCh37)
Canonical SPDI:: NC_000002.12:97655568:T:A
Gene:: ACTR1B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_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_000002.12:g.97655569T>A, NC_000002.11:g.98272032T>A, NW_025791765.1:g.581600T>A

Select item 14896950339.

rs1489695033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:97663986 (GRCh38)
2:98280449 (GRCh37)
Canonical SPDI:: NC_000002.12:97663985:C:G,NC_000002.12:97663985:C:T
Gene:: ACTR1B (Varview), C2orf92 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.97663986C>G, NC_000002.12:g.97663986C>T, NC_000002.11:g.98280449C>G, NC_000002.11:g.98280449C>T, NW_025791765.1:g.590017C>G, NW_025791765.1:g.590017C>T, XM_005263854.6:c.-242G>C, XM_005263854.6:c.-242G>A, NM_005735.4:c.-96G>C, NM_005735.4:c.-96G>A, NM_005735.3:c.-96G>C, NM_005735.3:c.-96G>A, XM_024453113.2:c.46C>G, XM_024453113.2:c.46C>T, XM_024453113.1:c.46C>G, XM_024453113.1:c.46C>T, XM_024453105.2:c.46C>G, XM_024453105.2:c.46C>T, XM_024453105.1:c.46C>G, XM_024453105.1:c.46C>T, XM_024453106.2:c.46C>G, XM_024453106.2:c.46C>T, XM_024453106.1:c.46C>G, XM_024453106.1:c.46C>T, XM_024453109.2:c.46C>G, XM_024453109.2:c.46C>T, XM_024453109.1:c.46C>G, XM_024453109.1:c.46C>T, XP_024308881.1:p.Arg16Gly, XP_024308881.1:p.Arg16Trp, XP_024308873.1:p.Arg16Gly, XP_024308873.1:p.Arg16Trp, XP_024308874.1:p.Arg16Gly, XP_024308874.1:p.Arg16Trp, XP_024308877.1:p.Arg16Gly, XP_024308877.1:p.Arg16Trp

Select item 148959782510.

rs1489597825 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:97656888 (GRCh38)
2:98273351 (GRCh37)
Canonical SPDI:: NC_000002.12:97656887:G:A
Gene:: ACTR1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.97656888G>A, NC_000002.11:g.98273351G>A, NW_025791765.1:g.582919G>A, XM_005263854.6:c.879C>T, XM_005263854.5:c.879C>T, XM_005263854.4:c.879C>T, XM_005263854.3:c.879C>T, XM_005263854.2:c.879C>T, XM_005263854.1:c.879C>T, NM_005735.4:c.1101C>T, NM_005735.3:c.1101C>T, XM_017003116.2:c.969C>T, XM_017003116.1:c.969C>T

Select item 148954880611.

rs1489548806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:97663043 (GRCh38)
2:98279506 (GRCh37)
Canonical SPDI:: NC_000002.12:97663042:G:A
Gene:: ACTR1B (Varview), C2orf92 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.97663043G>A, NC_000002.11:g.98279506G>A, NW_025791765.1:g.589074G>A

Select item 148921293412.

rs1489212934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:97660457 (GRCh38)
2:98276920 (GRCh37)
Canonical SPDI:: NC_000002.12:97660456:G:C
Gene:: ACTR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
C=0.000071/1 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000002.12:g.97660457G>C, NC_000002.11:g.98276920G>C, NW_025791765.1:g.586488G>C

Select item 148874772413.

rs1488747724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:97661246 (GRCh38)
2:98277709 (GRCh37)
Canonical SPDI:: NC_000002.12:97661245:C:G
Gene:: ACTR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.97661246C>G, NC_000002.11:g.98277709C>G, NW_025791765.1:g.587277C>G

Select item 148864197814.

rs1488641978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:97657461 (GRCh38)
2:98273924 (GRCh37)
Canonical SPDI:: NC_000002.12:97657460:T:A
Gene:: ACTR1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.97657461T>A, NC_000002.11:g.98273924T>A, NW_025791765.1:g.583492T>A, XM_005263854.6:c.752A>T, XM_005263854.5:c.752A>T, XM_005263854.4:c.752A>T, XM_005263854.3:c.752A>T, XM_005263854.2:c.752A>T, XM_005263854.1:c.752A>T, NM_005735.4:c.974A>T, NM_005735.3:c.974A>T, XM_017003116.2:c.842A>T, XM_017003116.1:c.842A>T, XP_005263911.1:p.Asp251Val, NP_005726.1:p.Asp325Val, XP_016858605.1:p.Asp281Val

Select item 148849207515.

rs1488492075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:97657812 (GRCh38)
2:98274275 (GRCh37)
Canonical SPDI:: NC_000002.12:97657811:C:T
Gene:: ACTR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.97657812C>T, NC_000002.11:g.98274275C>T, NW_025791765.1:g.583843C>T

Select item 148832115916.

rs1488321159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:97660039 (GRCh38)
2:98276502 (GRCh37)
Canonical SPDI:: NC_000002.12:97660038:C:T
Gene:: ACTR1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.97660039C>T, NC_000002.11:g.98276502C>T, NW_025791765.1:g.586070C>T

Select item 148828236617.

rs1488282366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:97656825 (GRCh38)
2:98273288 (GRCh37)
Canonical SPDI:: NC_000002.12:97656824:C:T
Gene:: ACTR1B (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000002.12:g.97656825C>T, NC_000002.11:g.98273288C>T, NW_025791765.1:g.582856C>T, XM_005263854.6:c.*33G>A, XM_005263854.5:c.*33G>A, XM_005263854.4:c.*33G>A, XM_005263854.3:c.*33G>A, XM_005263854.2:c.*33G>A, XM_005263854.1:c.*33G>A, NM_005735.4:c.*33G>A, NM_005735.3:c.*33G>A, XM_017003116.2:c.*33G>A, XM_017003116.1:c.*33G>A

Select item 148814095018.

rs1488140950 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:97658056 (GRCh38)
2:98274519 (GRCh37)
Canonical SPDI:: NC_000002.12:97658052:CTCTC:CTC
Gene:: ACTR1B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.97658054TC[1], NC_000002.11:g.98274517TC[1], NW_025791765.1:g.584085TC[1], XM_005263854.6:c.592_593del, XM_005263854.5:c.592_593del, XM_005263854.4:c.592_593del, XM_005263854.3:c.592_593del, XM_005263854.2:c.592_593del, XM_005263854.1:c.592_593del, NM_005735.4:c.814_815del, NM_005735.3:c.814_815del, XM_017003116.2:c.682_683del, XM_017003116.1:c.682_683del, XP_005263911.1:p.Glu197_Ser198insTer, NP_005726.1:p.Glu271_Ser272insTer, XP_016858605.1:p.Glu227_Ser228insTer

Select item 148784375519.

rs1487843755 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:97665789 (GRCh38)
2:98282252 (GRCh37)
Canonical SPDI:: NC_000002.12:97665788:T:C
Gene:: ACTR1B (Varview), C2orf92 (Varview), LOC124900516 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.97665789T>C, NC_000002.11:g.98282252T>C, NW_025791765.1:g.591820T>C

Select item 148773217820.

rs1487732178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:97663407 (GRCh38)
2:98279870 (GRCh37)
Canonical SPDI:: NC_000002.12:97663406:C:G
Gene:: ACTR1B (Varview), C2orf92 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.97663407C>G, NC_000002.11:g.98279870C>G, NW_025791765.1:g.589438C>G

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