SNP Links for Gene (Select 94239) - SNP

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Select item 14914010151.

rs1491401015 has merged into rs11297798 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:44829616 (GRCh38)
7:44869215 (GRCh37)
Canonical SPDI:: NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:44829603:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: H2AZ2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.1095/422 (ALSPAC)
A=0.25271/140 (NorthernSweden)
A=0.44269/2217 (1000Genomes)
HGVS:: NC_000007.14:g.44829616_44829620del, NC_000007.14:g.44829617_44829620del, NC_000007.14:g.44829618_44829620del, NC_000007.14:g.44829619_44829620del, NC_000007.14:g.44829620del, NC_000007.14:g.44829620dup, NC_000007.14:g.44829619_44829620dup, NC_000007.14:g.44829618_44829620dup, NC_000007.14:g.44829611_44829620dup, NC_000007.14:g.44829604_44829620dup, NC_000007.13:g.44869215_44869219del, NC_000007.13:g.44869216_44869219del, NC_000007.13:g.44869217_44869219del, NC_000007.13:g.44869218_44869219del, NC_000007.13:g.44869219del, NC_000007.13:g.44869219dup, NC_000007.13:g.44869218_44869219dup, NC_000007.13:g.44869217_44869219dup, NC_000007.13:g.44869210_44869219dup, NC_000007.13:g.44869203_44869219dup, NM_138635.3:c.*536_*540del, NM_138635.3:c.*537_*540del, NM_138635.3:c.*538_*540del, NM_138635.3:c.*539_*540del, NM_138635.3:c.*540del, NM_138635.3:c.*540dup, NM_138635.3:c.*539_*540dup, NM_138635.3:c.*538_*540dup, NM_138635.3:c.*531_*540dup, NM_138635.3:c.*524_*540dup

Select item 14913575582.

rs1491357558 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:44837831 (GRCh38)
7:44877430 (GRCh37)
Canonical SPDI:: NC_000007.14:44837830:AG:
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000007.14:g.44837831_44837832del, NC_000007.13:g.44877430_44877431del

Select item 14913031333.

rs1491303133 [Homo sapiens]

Variant type:: SNV:
Alleles:: CC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14912774924.

rs1491277492 has merged into rs61670696 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG [Show Flanks]
Chromosome:: 7:44837840 (GRCh38)
7:44877439 (GRCh37)
Canonical SPDI:: NC_000007.14:44837831:GGGGGGGGGGG:GGGGGGGG,NC_000007.14:44837831:GGGGGGGGGGG:GGGGGGGGG,NC_000007.14:44837831:GGGGGGGGGGG:GGGGGGGGGG,NC_000007.14:44837831:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000007.14:44837831:GGGGGGGGGGG:GGGGGGGGGGGGG
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.041/24 (NorthernSweden)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000007.14:g.44837840_44837842del, NC_000007.14:g.44837841_44837842del, NC_000007.14:g.44837842del, NC_000007.14:g.44837842dup, NC_000007.14:g.44837841_44837842dup, NC_000007.13:g.44877439_44877441del, NC_000007.13:g.44877440_44877441del, NC_000007.13:g.44877441del, NC_000007.13:g.44877441dup, NC_000007.13:g.44877440_44877441dup

Select item 14912262335.

rs1491226233 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AAAAGAAAAAAAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14911906036.

rs1491190603 has merged into rs10573522 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 7:44846038 (GRCh38)
7:44885637 (GRCh37)
Canonical SPDI:: NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000007.14:44846024:ACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.097027/25682 (TOPMED)
-=0.288791/1113 (ALSPAC)
HGVS:: NC_000007.14:g.44846026CA[6], NC_000007.14:g.44846026CA[7], NC_000007.14:g.44846026CA[8], NC_000007.14:g.44846026CA[9], NC_000007.14:g.44846026CA[10], NC_000007.14:g.44846026CA[11], NC_000007.14:g.44846026CA[12], NC_000007.14:g.44846026CA[13], NC_000007.14:g.44846026CA[14], NC_000007.14:g.44846026CA[15], NC_000007.14:g.44846026CA[16], NC_000007.14:g.44846026CA[17], NC_000007.14:g.44846026CA[18], NC_000007.14:g.44846026CA[20], NC_000007.14:g.44846026CA[21], NC_000007.14:g.44846026CA[22], NC_000007.14:g.44846026CA[23], NC_000007.14:g.44846026CA[24], NC_000007.14:g.44846026CA[25], NC_000007.14:g.44846026CA[26], NC_000007.14:g.44846026CA[27], NC_000007.14:g.44846026CA[28], NC_000007.14:g.44846026CA[29], NC_000007.14:g.44846026CA[30], NC_000007.14:g.44846026CA[31], NC_000007.13:g.44885625CA[6], NC_000007.13:g.44885625CA[7], NC_000007.13:g.44885625CA[8], NC_000007.13:g.44885625CA[9], NC_000007.13:g.44885625CA[10], NC_000007.13:g.44885625CA[11], NC_000007.13:g.44885625CA[12], NC_000007.13:g.44885625CA[13], NC_000007.13:g.44885625CA[14], NC_000007.13:g.44885625CA[15], NC_000007.13:g.44885625CA[16], NC_000007.13:g.44885625CA[17], NC_000007.13:g.44885625CA[18], NC_000007.13:g.44885625CA[20], NC_000007.13:g.44885625CA[21], NC_000007.13:g.44885625CA[22], NC_000007.13:g.44885625CA[23], NC_000007.13:g.44885625CA[24], NC_000007.13:g.44885625CA[25], NC_000007.13:g.44885625CA[26], NC_000007.13:g.44885625CA[27], NC_000007.13:g.44885625CA[28], NC_000007.13:g.44885625CA[29], NC_000007.13:g.44885625CA[30], NC_000007.13:g.44885625CA[31]

Select item 14910447817.

rs1491044781 has merged into rs1554336348 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 7:44846064 (GRCh38)
7:44885663 (GRCh37)
Canonical SPDI:: NC_000007.14:44846062:AGAGAGAGA:A,NC_000007.14:44846062:AGAGAGAGA:AGA,NC_000007.14:44846062:AGAGAGAGA:AGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000007.14:44846062:AGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.03663/20 (NorthernSweden)
AGAG=0.308792/1145 (TWINSUK)
AGAG=0.30903/1191 (ALSPAC)
HGVS:: NC_000007.14:g.44846064_44846071del, NC_000007.14:g.44846064GA[1], NC_000007.14:g.44846064GA[2], NC_000007.14:g.44846064GA[3], NC_000007.14:g.44846064GA[5], NC_000007.14:g.44846064GA[6], NC_000007.14:g.44846064GA[7], NC_000007.14:g.44846064GA[8], NC_000007.14:g.44846064GA[9], NC_000007.14:g.44846064GA[10], NC_000007.14:g.44846064GA[11], NC_000007.14:g.44846064GA[12], NC_000007.14:g.44846064GA[13], NC_000007.14:g.44846064GA[14], NC_000007.13:g.44885663_44885670del, NC_000007.13:g.44885663GA[1], NC_000007.13:g.44885663GA[2], NC_000007.13:g.44885663GA[3], NC_000007.13:g.44885663GA[5], NC_000007.13:g.44885663GA[6], NC_000007.13:g.44885663GA[7], NC_000007.13:g.44885663GA[8], NC_000007.13:g.44885663GA[9], NC_000007.13:g.44885663GA[10], NC_000007.13:g.44885663GA[11], NC_000007.13:g.44885663GA[12], NC_000007.13:g.44885663GA[13], NC_000007.13:g.44885663GA[14]

Select item 14910310618.

rs1491031061 has merged into rs35455193 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:44834795 (GRCh38)
7:44874394 (GRCh37)
Canonical SPDI:: NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:44834784:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.44834795_44834804del, NC_000007.14:g.44834798_44834804del, NC_000007.14:g.44834799_44834804del, NC_000007.14:g.44834800_44834804del, NC_000007.14:g.44834801_44834804del, NC_000007.14:g.44834802_44834804del, NC_000007.14:g.44834803_44834804del, NC_000007.14:g.44834804del, NC_000007.14:g.44834804dup, NC_000007.14:g.44834803_44834804dup, NC_000007.14:g.44834802_44834804dup, NC_000007.14:g.44834801_44834804dup, NC_000007.14:g.44834800_44834804dup, NC_000007.14:g.44834799_44834804dup, NC_000007.14:g.44834798_44834804dup, NC_000007.14:g.44834796_44834804dup, NC_000007.14:g.44834795_44834804dup, NC_000007.14:g.44834804_44834805insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.44834804_44834805insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.44874394_44874403del, NC_000007.13:g.44874397_44874403del, NC_000007.13:g.44874398_44874403del, NC_000007.13:g.44874399_44874403del, NC_000007.13:g.44874400_44874403del, NC_000007.13:g.44874401_44874403del, NC_000007.13:g.44874402_44874403del, NC_000007.13:g.44874403del, NC_000007.13:g.44874403dup, NC_000007.13:g.44874402_44874403dup, NC_000007.13:g.44874401_44874403dup, NC_000007.13:g.44874400_44874403dup, NC_000007.13:g.44874399_44874403dup, NC_000007.13:g.44874398_44874403dup, NC_000007.13:g.44874397_44874403dup, NC_000007.13:g.44874395_44874403dup, NC_000007.13:g.44874394_44874403dup, NC_000007.13:g.44874403_44874404insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.44874403_44874404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14908645189.

rs1490864518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:44833206 (GRCh38)
7:44872805 (GRCh37)
Canonical SPDI:: NC_000007.14:44833205:T:C,NC_000007.14:44833205:T:G
Gene:: H2AZ2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
G=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.44833206T>C, NC_000007.14:g.44833206T>G, NC_000007.13:g.44872805T>C, NC_000007.13:g.44872805T>G, NM_012412.5:c.*1295A>G, NM_012412.5:c.*1295A>C, NM_201436.3:c.*1295A>G, NM_201436.3:c.*1295A>C, NM_201517.3:c.*1295A>G, NM_201517.3:c.*1295A>C, NM_201516.3:c.*1351A>G, NM_201516.3:c.*1351A>C

Select item 149077361010.

rs1490773610 [Homo sapiens]

Variant type:: SNV:
Alleles:: GCT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149069551311.

rs1490695513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:44843344 (GRCh38)
7:44882943 (GRCh37)
Canonical SPDI:: NC_000007.14:44843343:T:C
Gene:: H2AZ2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00009/2 (ALFA)
HGVS:: NC_000007.14:g.44843344T>C, NC_000007.13:g.44882943T>C, NM_012412.5:c.14A>G, NM_012412.4:c.14A>G, NM_138635.3:c.14A>G, NM_201517.3:c.14A>G, NM_201517.2:c.14A>G, NM_201516.3:c.14A>G, NM_201516.2:c.14A>G, NP_036544.1:p.Lys5Arg, NP_619541.1:p.Lys5Arg, NP_958925.1:p.Lys5Arg, NP_958924.1:p.Lys5Arg

Select item 149067465612.

rs1490674656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:44845351 (GRCh38)
7:44884950 (GRCh37)
Canonical SPDI:: NC_000007.14:44845350:A:G
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.44845351A>G, NC_000007.13:g.44884950A>G

Select item 149053202713.

rs1490532027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44835671 (GRCh38)
7:44875270 (GRCh37)
Canonical SPDI:: NC_000007.14:44835670:C:T
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.44835671C>T, NC_000007.13:g.44875270C>T

Select item 149050764714.

rs1490507647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:44839988 (GRCh38)
7:44879587 (GRCh37)
Canonical SPDI:: NC_000007.14:44839987:C:A,NC_000007.14:44839987:C:T
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.44839988C>A, NC_000007.14:g.44839988C>T, NC_000007.13:g.44879587C>A, NC_000007.13:g.44879587C>T

Select item 149034616115.

rs1490346161 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAGTCTGTA>- [Show Flanks]
Chromosome:: 7:44843156 (GRCh38)
7:44882755 (GRCh37)
Canonical SPDI:: NC_000007.14:44843154:AAAAAAAAAAAAAAAAAAAAAGTCTGTA:A
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002108/25 (ALFA)
-=0.003288/386 (GnomAD)
HGVS:: NC_000007.14:g.44843156_44843182del, NC_000007.13:g.44882755_44882781del

Select item 149033844716.

rs1490338447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:44848334 (GRCh38)
7:44887933 (GRCh37)
Canonical SPDI:: NC_000007.14:44848333:C:G
Gene:: H2AZ2 (Varview), H2AZ2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44848334C>G, NC_000007.13:g.44887933C>G, XR_927227.3:n.112C>G

Select item 149018359817.

rs1490183598 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:44827728 (GRCh38)
7:44867327 (GRCh37)
Canonical SPDI:: NC_000007.14:44827727:G:A
Gene:: H2AZ2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.44827728G>A, NC_000007.13:g.44867327G>A, NM_138635.3:c.*2416C>T

Select item 149015470818.

rs1490154708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:44841937 (GRCh38)
7:44881536 (GRCh37)
Canonical SPDI:: NC_000007.14:44841936:A:C
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.44841937A>C, NC_000007.13:g.44881536A>C

Select item 149004789619.

rs1490047896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44843103 (GRCh38)
7:44882702 (GRCh37)
Canonical SPDI:: NC_000007.14:44843102:C:T
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.44843103C>T, NC_000007.13:g.44882702C>T

Select item 148983167520.

rs1489831675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:44841991 (GRCh38)
7:44881590 (GRCh37)
Canonical SPDI:: NC_000007.14:44841990:C:T
Gene:: H2AZ2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.44841991C>T, NC_000007.13:g.44881590C>T

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