SNP Links for Gene (Select 84163) - SNP

Links from Gene

Items: 1 to 20 of 7532

<< First< Prev

Page of 377

Next >Last >>

Select item 14915288751.

rs1491528875 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 7:74815857 (GRCh38)
7:74230385 (GRCh37)
Canonical SPDI:: NC_000007.14:74815857:GAA:GAAGGAA
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAA=0.00008/1 (ALFA)
GAAG=0.00045/44 (GnomAD)
HGVS:: NC_000007.14:g.74815860_74815861insGGAA, NW_003871064.1:g.2345096_2345097insGGAA, NG_042249.1:g.82024_82025insGGAA, NG_053172.1:g.40719_40720insCTTC, NC_000007.13:g.74230387_74230388insGGAA

Select item 14914877592.

rs1491487759 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAA,CAAAACAAAAAA,CAAACAAAAAA [Show Flanks]
Chromosome:: 7:74829888 (GRCh38)
7:74245010 (GRCh37)
Canonical SPDI:: NC_000007.14:74829888:AAAAAA:AAAAAACAAAAAA,NC_000007.14:74829888:AAAAAA:AAAAAACAAAACAAAAAA,NC_000007.14:74829888:AAAAAA:AAAAAACAAACAAAAAA
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAACAAAACAAAAAA=0./0 (ALFA)
AAAAAAC=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.74829889_74829894A[6]CAAAAAA[1], NC_000007.14:g.74829889_74829894A[6]CAAAA[2]AA[1], NC_000007.14:g.74829889_74829894A[6]CAAA[2]AAA[1], NW_003871064.1:g.2359125_2359130A[6]CAAAAAA[1], NW_003871064.1:g.2359125_2359130A[6]CAAAA[2]AA[1], NW_003871064.1:g.2359125_2359130A[6]CAAA[2]AAA[1], NG_042249.1:g.96053_96058A[6]CAAAAAA[1], NG_042249.1:g.96053_96058A[6]CAAAA[2]AA[1], NG_042249.1:g.96053_96058A[6]CAAA[2]AAA[1], NG_053172.1:g.26683_26688T[6]GTTTTTT[1], NG_053172.1:g.26683_26688T[6]GTTTT[2]TT[1], NG_053172.1:g.26683_26688T[6]GTTT[2]TTT[1], NC_000007.13:g.74245010_74245015A[6]CAAAAAA[1], NC_000007.13:g.74245010_74245015A[6]CAAAA[2]AA[1], NC_000007.13:g.74245010_74245015A[6]CAAA[2]AAA[1]

Select item 14914012073.

rs1491401207 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:74821930 (GRCh38)
7:74236449 (GRCh37)
Canonical SPDI:: NC_000007.14:74821929:AG:
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.74821930_74821931del, NW_003871064.1:g.2351166_2351167del, NG_042249.1:g.88094_88095del, NG_053172.1:g.34646_34647del, NC_000007.13:g.74236458dup, NC_000007.13:g.74236465del

Select item 14913134604.

rs1491313460 has merged into rs1554420189 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:74829901 (GRCh38)
7:74245018 (GRCh37)
Canonical SPDI:: NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74829887:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.01868/72 (ALSPAC)
HGVS:: NC_000007.14:g.74829901_74829902del, NC_000007.14:g.74829902del, NC_000007.14:g.74829902dup, NC_000007.14:g.74829900_74829902dup, NC_000007.14:g.74829899_74829902dup, NC_000007.14:g.74829898_74829902dup, NC_000007.14:g.74829897_74829902dup, NC_000007.14:g.74829896_74829902dup, NC_000007.14:g.74829893_74829902dup, NC_000007.14:g.74829892_74829902dup, NC_000007.14:g.74829891_74829902dup, NC_000007.14:g.74829890_74829902dup, NC_000007.14:g.74829889_74829902dup, NC_000007.14:g.74829888_74829902dup, NC_000007.14:g.74829902_74829903insAAAAAAAAAAAAAAAAAA, NW_003871064.1:g.2359137_2359138del, NW_003871064.1:g.2359138del, NW_003871064.1:g.2359138dup, NW_003871064.1:g.2359136_2359138dup, NW_003871064.1:g.2359135_2359138dup, NW_003871064.1:g.2359134_2359138dup, NW_003871064.1:g.2359133_2359138dup, NW_003871064.1:g.2359132_2359138dup, NW_003871064.1:g.2359129_2359138dup, NW_003871064.1:g.2359128_2359138dup, NW_003871064.1:g.2359127_2359138dup, NW_003871064.1:g.2359126_2359138dup, NW_003871064.1:g.2359125_2359138dup, NW_003871064.1:g.2359124_2359138dup, NW_003871064.1:g.2359138_2359139insAAAAAAAAAAAAAAAAAA, NG_042249.1:g.96065_96066del, NG_042249.1:g.96066del, NG_042249.1:g.96066dup, NG_042249.1:g.96064_96066dup, NG_042249.1:g.96063_96066dup, NG_042249.1:g.96062_96066dup, NG_042249.1:g.96061_96066dup, NG_042249.1:g.96060_96066dup, NG_042249.1:g.96057_96066dup, NG_042249.1:g.96056_96066dup, NG_042249.1:g.96055_96066dup, NG_042249.1:g.96054_96066dup, NG_042249.1:g.96053_96066dup, NG_042249.1:g.96052_96066dup, NG_042249.1:g.96066_96067insAAAAAAAAAAAAAAAAAA, NG_053172.1:g.26688_26689del, NG_053172.1:g.26689del, NG_053172.1:g.26689dup, NG_053172.1:g.26687_26689dup, NG_053172.1:g.26686_26689dup, NG_053172.1:g.26685_26689dup, NG_053172.1:g.26684_26689dup, NG_053172.1:g.26683_26689dup, NG_053172.1:g.26680_26689dup, NG_053172.1:g.26679_26689dup, NG_053172.1:g.26678_26689dup, NG_053172.1:g.26677_26689dup, NG_053172.1:g.26676_26689dup, NG_053172.1:g.26675_26689dup, NG_053172.1:g.26689_26690insTTTTTTTTTTTTTTTTTT, NC_000007.13:g.74245016_74245023dup, NC_000007.13:g.74245018_74245023dup, NC_000007.13:g.74245017_74245023dup, NC_000007.13:g.74245015_74245023dup, NC_000007.13:g.74245013_74245023dup, NC_000007.13:g.74245012_74245023dup, NC_000007.13:g.74245011_74245023dup, NC_000007.13:g.74245010_74245023dup, NC_000007.13:g.74245009_74245023dup, NC_000007.13:g.74245006_74245023dup, NC_000007.13:g.74245005_74245023dup, NC_000007.13:g.74245023_74245024insAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.74245023_74245024insAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.74245023_74245024insAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.74245023_74245024insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.74245023_74245024insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912913675.

rs1491291367 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 7:74821930 (GRCh38)
7:74236459 (GRCh37)
Canonical SPDI:: NC_000007.14:74821930::AG
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
AG=0.000004/1 (TOPMED)
AG=0.000008/1 (GnomAD)
AG=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.74821930_74821931insAG, NW_003871064.1:g.2351166_2351167insAG, NG_042249.1:g.88094_88095insAG, NG_053172.1:g.34646_34647insCT, NC_000007.13:g.74236458_74236459insAG

Select item 14911393436.

rs1491139343 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 7:74815858 (GRCh38)
7:74230385 (GRCh37)
Canonical SPDI:: NC_000007.14:74815856:AGA:A
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000007.14:g.74815858_74815859del, NW_003871064.1:g.2345094_2345095del, NG_042249.1:g.82022_82023del, NG_053172.1:g.40719_40720del, NC_000007.13:g.74230385_74230386del

Select item 14909538027.

rs1490953802 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74811183 (GRCh38)
7:74225717 (GRCh37)
Canonical SPDI:: NC_000007.14:74811182:A:G
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74811183A>G, NW_003871064.1:g.2340419A>G, NG_042249.1:g.77347A>G, NG_053172.1:g.45394T>C, NC_000007.13:g.74225717A>G

Select item 14908850378.

rs1490885037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74840553 (GRCh38)
7:74256878 (GRCh37)
Canonical SPDI:: NC_000007.14:74840552:C:T
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (Korea1K)
T=0.00043/7 (TOMMO)
T=0.00137/4 (KOREAN)
HGVS:: NC_000007.14:g.74840553C>T, NW_003871064.1:g.2369789C>T, NG_042249.1:g.106717C>T, NG_053172.1:g.16024G>A, NC_000007.13:g.74256878C>T

Select item 14908267289.

rs1490826728 has merged into rs587617748 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74822801 (GRCh38)
7:74237329 (GRCh37)
Canonical SPDI:: NC_000007.14:74822800:G:A
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.00003/3 (ExAC)
A=0.00004/8 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
A=0.000212/4 (TOMMO)
HGVS:: NC_000007.14:g.74822801G>A, NW_003871064.1:g.2352037G>A, NG_042249.1:g.88965G>A, NG_053172.1:g.33776C>T, NM_173537.3:c.365C>T, NM_173537.5:c.365C>T, NM_173537.4:c.365C>T, NC_000007.13:g.74237329G>A, NM_001368300.2:c.851C>T, NM_001368300.1:c.851C>T, NR_170885.1:n.1788C>T, NR_170881.1:n.609C>T, NM_001388079.1:c.365C>T, NR_170882.1:n.609C>T, NR_170886.1:n.609C>T, NM_001388088.1:c.365C>T, NM_001388087.1:c.365C>T, NM_001388080.1:c.365C>T, NM_001388081.1:c.365C>T, NR_170884.1:n.609C>T, NR_170883.1:n.609C>T, NM_001388082.1:c.365C>T, NM_001388089.1:c.365C>T, NM_001388084.1:c.365C>T, NP_775808.4:p.Ala122Val, NP_001355229.1:p.Ala284Val, NP_001375008.1:p.Ala122Val, NP_001375017.1:p.Ala122Val, NP_001375016.1:p.Ala122Val, NP_001375009.1:p.Ala122Val, NP_001375010.1:p.Ala122Val, NP_001375011.1:p.Ala122Val, NP_001375018.1:p.Ala122Val, NP_001375013.1:p.Ala122Val

Select item 149081883810.

rs1490818838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:74823792 (GRCh38)
7:74238319 (GRCh37)
Canonical SPDI:: NC_000007.14:74823791:T:A
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74823792T>A, NW_003871064.1:g.2353028T>A, NG_042249.1:g.89956T>A, NG_053172.1:g.32785A>T, NC_000007.13:g.74238319T>A

Select item 149079412911.

rs1490794129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTAG [Show Flanks]
Chromosome:: 7:74839850 (GRCh38)
7:74256176 (GRCh37)
Canonical SPDI:: NC_000007.14:74839850:TTAG:TTAGTTAG
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAGTTAG=0.000071/1 (ALFA)
TTAG=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.74839851_74839854dup, NW_003871064.1:g.2369087_2369090dup, NG_042249.1:g.106015_106018dup, NG_053172.1:g.16723_16726dup, NC_000007.13:g.74256176_74256179dup

Select item 149069629312.

rs1490696293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:74797962 (GRCh38)
7:74212301 (GRCh37)
Canonical SPDI:: NC_000007.14:74797961:G:T
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00002/1 (GnomAD)
HGVS:: NC_000007.14:g.74797962G>T, NW_003871064.1:g.2327198G>T, NG_042249.1:g.64126G>T, NG_053172.1:g.58615C>A, NM_173537.3:c.1550C>A, NM_173537.5:c.1550C>A, NM_173537.4:c.1550C>A, NC_000007.13:g.74212301G>T, NM_001368300.2:c.2036C>A, NM_001368300.1:c.2036C>A, NR_170885.1:n.3060C>A, NR_170881.1:n.1865C>A, NM_001388079.1:c.1565C>A, NR_170882.1:n.1796C>A, NR_170886.1:n.1765C>A, NM_001388088.1:c.*168C>A, NM_001388087.1:c.1499C>A, NM_001388080.1:c.1484C>A, NM_001388081.1:c.1472C>A, NR_170884.1:n.1687C>A, NR_170883.1:n.1687C>A, NM_001388082.1:c.1415C>A, NM_001388089.1:c.*286C>A, NR_170887.1:n.1609C>A, NM_001388085.1:c.1055C>A, NM_001388084.1:c.1337C>A, NM_001388083.1:c.1337C>A, NR_170888.1:n.1580C>A, NR_170889.1:n.1564C>A, NM_001388460.1:c.*168C>A, NM_001388086.1:c.974C>A, NR_170890.1:n.1486C>A, NM_001388461.1:c.*168C>A, NP_775808.4:p.Pro517Gln, NP_001355229.1:p.Pro679Gln, NP_001375008.1:p.Pro522Gln, NP_001375016.1:p.Pro500Gln, NP_001375009.1:p.Pro495Gln, NP_001375010.1:p.Pro491Gln, NP_001375011.1:p.Pro472Gln, NP_001375014.1:p.Pro352Gln, NP_001375013.1:p.Pro446Gln, NP_001375012.1:p.Pro446Gln, NP_001375015.1:p.Pro325Gln

Select item 149068330213.

rs1490683302 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTTTTTTTTTTT>- [Show Flanks]
Chromosome:: 7:74799011 (GRCh38)
7:74213350 (GRCh37)
Canonical SPDI:: NC_000007.14:74799005:TTTTTCTTTTTTTTTTTTT:TTTTT
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0.000084/1 (ALFA)
-=0.000447/58 (GnomAD)
HGVS:: NC_000007.14:g.74799011_74799024del, NW_003871064.1:g.2328247_2328260del, NG_042249.1:g.65175_65188del, NG_053172.1:g.57558_57571del, NC_000007.13:g.74213350_74213363del

Select item 149066399914.

rs1490663999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:74823162 (GRCh38)
7:74237690 (GRCh37)
Canonical SPDI:: NC_000007.14:74823161:C:G
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.74823162C>G, NW_003871064.1:g.2352398C>G, NG_042249.1:g.89326C>G, NG_053172.1:g.33415G>C, NC_000007.13:g.74237690C>G

Select item 149062908815.

rs1490629088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74824034 (GRCh38)
7:74238561 (GRCh37)
Canonical SPDI:: NC_000007.14:74824033:C:T
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00067/8 (ALFA)
T=0.0022/4 (Korea1K)
T=0.00315/53 (TOMMO)
T=0.00377/11 (KOREAN)
T=0.01017/6 (NorthernSweden)
HGVS:: NC_000007.14:g.74824034C>T, NW_003871064.1:g.2353270C>T, NG_042249.1:g.90198C>T, NG_053172.1:g.32543G>A, NC_000007.13:g.74238561C>T

Select item 149053448216.

rs1490534482 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74798451 (GRCh38)
7:74212790 (GRCh37)
Canonical SPDI:: NC_000007.14:74798450:A:G
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74798451A>G, NW_003871064.1:g.2327687A>G, NG_042249.1:g.64615A>G, NG_053172.1:g.58126T>C, NC_000007.13:g.74212790A>G

Select item 149051934517.

rs1490519345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74799401 (GRCh38)
7:74213740 (GRCh37)
Canonical SPDI:: NC_000007.14:74799400:G:A
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00031/2 (1000Genomes)
HGVS:: NC_000007.14:g.74799401G>A, NW_003871064.1:g.2328637G>A, NG_042249.1:g.65565G>A, NG_053172.1:g.57176C>T, NC_000007.13:g.74213740G>A

Select item 149049343118.

rs1490493431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74851032 (GRCh38)
7:-1 (GRCh37)
Canonical SPDI:: NC_000007.14:74851031:C:T
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74851032C>T, NW_003871064.1:g.2380268C>T, NG_042249.1:g.117196C>T, NG_053172.1:g.5545G>A

Select item 149044237119.

rs1490442371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:74852345 (GRCh38)
7:74268641 (GRCh37)
Canonical SPDI:: NC_000007.14:74852344:T:G
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000115/16 (GnomAD)
HGVS:: NC_000007.14:g.74852345T>G, NW_003871064.1:g.2381581T>G, NG_042249.1:g.118509T>G, NG_053172.1:g.4232A>C, NC_000007.13:g.74268641T>G

Select item 149039581620.

rs1490395816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:74812777 (GRCh38)
7:74227310 (GRCh37)
Canonical SPDI:: NC_000007.14:74812776:T:G
Gene:: GTF2IRD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.74812777T>G, NW_003871064.1:g.2342013T>G, NG_042249.1:g.78941T>G, NG_053172.1:g.43800A>C, NM_173537.3:c.710A>C, NM_173537.5:c.710A>C, NM_173537.4:c.710A>C, NC_000007.13:g.74227310T>G, NM_001368300.2:c.1196A>C, NM_001368300.1:c.1196A>C, NR_170885.1:n.2204A>C, NR_170881.1:n.1025A>C, NM_001388079.1:c.710A>C, NR_170882.1:n.925A>C, NR_170886.1:n.925A>C, NM_001388088.1:c.710A>C, NM_001388087.1:c.710A>C, NM_001388080.1:c.710A>C, NR_170883.1:n.925A>C, NM_001388089.1:c.710A>C, NR_170887.1:n.753A>C, NM_001388085.1:c.200A>C, NM_001388084.1:c.710A>C, NM_001388083.1:c.497A>C, NR_170888.1:n.753A>C, NR_170889.1:n.753A>C, NM_001388460.1:c.200A>C, NM_001388086.1:c.200A>C, NP_775808.4:p.Glu237Ala, NP_001355229.1:p.Glu399Ala, NP_001375008.1:p.Glu237Ala, NP_001375017.1:p.Glu237Ala, NP_001375016.1:p.Glu237Ala, NP_001375009.1:p.Glu237Ala, NP_001375018.1:p.Glu237Ala, NP_001375014.1:p.Glu67Ala, NP_001375013.1:p.Glu237Ala, NP_001375012.1:p.Glu166Ala, NP_001375389.1:p.Glu67Ala, NP_001375015.1:p.Glu67Ala

<< First< Prev

Page of 377

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 7532

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity