SNP Links for Nucleotide (Select 446713904) - SNP

Links from Nucleotide

Items: 1 to 20 of 327

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Select item 14914581201.

rs1491458120 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:26198880 (GRCh38)
6:26199108 (GRCh37)
Canonical SPDI:: NC_000006.12:26198879:CA:
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,2KB_upstream_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000033/4 (ExAC)
-=0.000043/6 (GnomAD)
-=0.000044/11 (GnomAD_exomes)
-=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.26198880_26198881del, NC_000006.11:g.26199108_26199109del, NM_003530.4:c.-42_-41del, NM_021065.3:c.363_364del, NP_066409.1:p.His124fs

Select item 14874531432.

rs1487453143 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:26198805 (GRCh38)
6:26199033 (GRCh37)
Canonical SPDI:: NC_000006.12:26198804:T:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,3_prime_UTR_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.26198805T>A, NC_000006.11:g.26199033T>A, NM_021065.3:c.*46A>T

Select item 14859983863.

rs1485998386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26199138 (GRCh38)
6:26199366 (GRCh37)
Canonical SPDI:: NC_000006.12:26199137:G:A,NC_000006.12:26199137:G:C
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26199138G>A, NC_000006.12:g.26199138G>C, NC_000006.11:g.26199366G>A, NC_000006.11:g.26199366G>C, NM_003530.4:c.-299C>T, NM_003530.4:c.-299C>G, NM_021065.3:c.106C>T, NM_021065.3:c.106C>G, NP_066409.1:p.Arg36Cys, NP_066409.1:p.Arg36Gly

Select item 14832245654.

rs1483224565 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:26199209 (GRCh38)
6:26199437 (GRCh37)
Canonical SPDI:: NC_000006.12:26199208:C:A,NC_000006.12:26199208:C:T
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26199209C>A, NC_000006.12:g.26199209C>T, NC_000006.11:g.26199437C>A, NC_000006.11:g.26199437C>T, NM_003530.4:c.-370G>T, NM_003530.4:c.-370G>A, NM_021065.3:c.35G>T, NM_021065.3:c.35G>A, NP_066409.1:p.Arg12Leu, NP_066409.1:p.Arg12Gln

Select item 14778753615.

rs1477875361 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:26198944 (GRCh38)
6:26199172 (GRCh37)
Canonical SPDI:: NC_000006.12:26198943:T:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26198944T>A, NC_000006.11:g.26199172T>A, NM_003530.4:c.-105A>T, NM_021065.3:c.300A>T, NP_066409.1:p.Lys100Asn

Select item 14770089466.

rs1477008946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:26199224 (GRCh38)
6:26199452 (GRCh37)
Canonical SPDI:: NC_000006.12:26199223:T:C
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.26199224T>C, NC_000006.11:g.26199452T>C, NM_003530.4:c.-385A>G, NM_021065.3:c.20A>G, NP_066409.1:p.Gln7Arg

Select item 14738643807.

rs1473864380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:26199027 (GRCh38)
6:26199255 (GRCh37)
Canonical SPDI:: NC_000006.12:26199026:C:G
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26199027C>G, NC_000006.11:g.26199255C>G, NM_003530.4:c.-188G>C, NM_021065.3:c.217G>C, NP_066409.1:p.Asp73His

Select item 14715793278.

rs1471579327 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:26199180 (GRCh38)
6:26199408 (GRCh37)
Canonical SPDI:: NC_000006.12:26199179:C:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/3 (GnomAD_exomes)
A=0.000026/7 (TOPMED)
A=0.000071/10 (GnomAD)
HGVS:: NC_000006.12:g.26199180C>A, NC_000006.11:g.26199408C>A, NM_003530.4:c.-341G>T, NM_021065.3:c.64G>T, NP_066409.1:p.Ala22Ser

Select item 14698326799.

rs1469832679 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26199283 (GRCh38)
6:26199511 (GRCh37)
Canonical SPDI:: NC_000006.12:26199282:A:G
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26199283A>G, NC_000006.11:g.26199511A>G, NM_003530.4:c.-444T>C, NM_021065.3:c.-40T>C

Select item 144806989910.

rs1448069899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:26198911 (GRCh38)
6:26199139 (GRCh37)
Canonical SPDI:: NC_000006.12:26198910:G:A,NC_000006.12:26198910:G:T
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.26198911G>A, NC_000006.12:g.26198911G>T, NC_000006.11:g.26199139G>A, NC_000006.11:g.26199139G>T, NM_003530.4:c.-72C>T, NM_003530.4:c.-72C>A, NM_021065.3:c.333C>T, NM_021065.3:c.333C>A, NP_066409.1:p.Asn111Lys

Select item 144695960911.

rs1446959609 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 6:26198808 (GRCh38)
6:26199036 (GRCh37)
Canonical SPDI:: NC_000006.12:26198805:TTGTT:TT
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000084/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26198808_26198810del, NC_000006.11:g.26199036_26199038del, NM_021065.3:c.*43_*45del

Select item 144089131612.

rs1440891316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:26199043 (GRCh38)
6:26199271 (GRCh37)
Canonical SPDI:: NC_000006.12:26199042:C:A,NC_000006.12:26199042:C:G,NC_000006.12:26199042:C:T
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26199043C>A, NC_000006.12:g.26199043C>G, NC_000006.12:g.26199043C>T, NC_000006.11:g.26199271C>A, NC_000006.11:g.26199271C>G, NC_000006.11:g.26199271C>T, NM_003530.4:c.-204G>T, NM_003530.4:c.-204G>C, NM_003530.4:c.-204G>A, NM_021065.3:c.201G>T, NM_021065.3:c.201G>C, NM_021065.3:c.201G>A

Select item 143670871913.

rs1436708719 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:26198963 (GRCh38)
6:26199191 (GRCh37)
Canonical SPDI:: NC_000006.12:26198962:A:G
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.26198963A>G, NC_000006.11:g.26199191A>G, NM_003530.4:c.-124T>C, NM_021065.3:c.281T>C, NP_066409.1:p.Leu94Pro

Select item 143516231914.

rs1435162319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:26198998 (GRCh38)
6:26199226 (GRCh37)
Canonical SPDI:: NC_000006.12:26198997:T:G
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00015/2 (ALFA)
G=0.00022/1 (Estonian)
HGVS:: NC_000006.12:g.26198998T>G, NC_000006.11:g.26199226T>G, NM_003530.4:c.-159A>C, NM_021065.3:c.246A>C

Select item 143472747315.

rs1434727473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26199145 (GRCh38)
6:26199373 (GRCh37)
Canonical SPDI:: NC_000006.12:26199144:G:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.26199145G>A, NC_000006.11:g.26199373G>A, NM_003530.4:c.-306C>T, NM_021065.3:c.99C>T

Select item 142882654816.

rs1428826548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26199037 (GRCh38)
6:26199265 (GRCh37)
Canonical SPDI:: NC_000006.12:26199036:G:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.26199037G>A, NC_000006.11:g.26199265G>A, NM_003530.4:c.-198C>T, NM_021065.3:c.207C>T

Select item 141952561317.

rs1419525613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:26198959 (GRCh38)
6:26199187 (GRCh37)
Canonical SPDI:: NC_000006.12:26198958:G:A,NC_000006.12:26198958:G:C
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.26198959G>A, NC_000006.12:g.26198959G>C, NC_000006.11:g.26199187G>A, NC_000006.11:g.26199187G>C, NM_003530.4:c.-120C>T, NM_003530.4:c.-120C>G, NM_021065.3:c.285C>T, NM_021065.3:c.285C>G, NP_066409.1:p.Asn95Lys

Select item 141770259718.

rs1417702597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:26199166 (GRCh38)
6:26199394 (GRCh37)
Canonical SPDI:: NC_000006.12:26199165:G:A
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.26199166G>A, NC_000006.11:g.26199394G>A, NM_003530.4:c.-327C>T, NM_021065.3:c.78C>T

Select item 141471320719.

rs1414713207 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:26199182 (GRCh38)
6:26199410 (GRCh37)
Canonical SPDI:: NC_000006.12:26199181:C:A,NC_000006.12:26199181:C:T
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.26199182C>A, NC_000006.12:g.26199182C>T, NC_000006.11:g.26199410C>A, NC_000006.11:g.26199410C>T, NM_003530.4:c.-343G>T, NM_003530.4:c.-343G>A, NM_021065.3:c.62G>T, NM_021065.3:c.62G>A, NP_066409.1:p.Arg21Leu, NP_066409.1:p.Arg21Gln

Select item 141182381020.

rs1411823810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 6:26199217 (GRCh38)
6:26199445 (GRCh37)
Canonical SPDI:: NC_000006.12:26199216:T:A,NC_000006.12:26199216:T:G
Gene:: H2AC7 (Varview), H2BC7 (Varview), H3C4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.26199217T>A, NC_000006.12:g.26199217T>G, NC_000006.11:g.26199445T>A, NC_000006.11:g.26199445T>G, NM_003530.4:c.-378A>T, NM_003530.4:c.-378A>C, NM_021065.3:c.27A>T, NM_021065.3:c.27A>C

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