SNP Links for Gene (Select 163131) - SNP

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Select item 14912004401.

rs1491200440 has merged into rs35460563 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:40049245 (GRCh38)
19:40555152 (GRCh37)
Canonical SPDI:: NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40049233:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.162234/61 (GoESP)
HGVS:: NC_000019.10:g.40049245_40049259del, NC_000019.10:g.40049246_40049259del, NC_000019.10:g.40049247_40049259del, NC_000019.10:g.40049248_40049259del, NC_000019.10:g.40049250_40049259del, NC_000019.10:g.40049251_40049259del, NC_000019.10:g.40049252_40049259del, NC_000019.10:g.40049253_40049259del, NC_000019.10:g.40049254_40049259del, NC_000019.10:g.40049255_40049259del, NC_000019.10:g.40049256_40049259del, NC_000019.10:g.40049257_40049259del, NC_000019.10:g.40049258_40049259del, NC_000019.10:g.40049259del, NC_000019.10:g.40049259dup, NC_000019.10:g.40049258_40049259dup, NC_000019.10:g.40049257_40049259dup, NC_000019.10:g.40049254_40049259dup, NC_000019.9:g.40555152_40555166del, NC_000019.9:g.40555153_40555166del, NC_000019.9:g.40555154_40555166del, NC_000019.9:g.40555155_40555166del, NC_000019.9:g.40555157_40555166del, NC_000019.9:g.40555158_40555166del, NC_000019.9:g.40555159_40555166del, NC_000019.9:g.40555160_40555166del, NC_000019.9:g.40555161_40555166del, NC_000019.9:g.40555162_40555166del, NC_000019.9:g.40555163_40555166del, NC_000019.9:g.40555164_40555166del, NC_000019.9:g.40555165_40555166del, NC_000019.9:g.40555166del, NC_000019.9:g.40555166dup, NC_000019.9:g.40555165_40555166dup, NC_000019.9:g.40555164_40555166dup, NC_000019.9:g.40555161_40555166dup, NW_009646206.1:g.324388_324402del, NW_009646206.1:g.324389_324402del, NW_009646206.1:g.324390_324402del, NW_009646206.1:g.324391_324402del, NW_009646206.1:g.324393_324402del, NW_009646206.1:g.324394_324402del, NW_009646206.1:g.324395_324402del, NW_009646206.1:g.324396_324402del, NW_009646206.1:g.324397_324402del, NW_009646206.1:g.324398_324402del, NW_009646206.1:g.324399_324402del, NW_009646206.1:g.324400_324402del, NW_009646206.1:g.324401_324402del, NW_009646206.1:g.324402del, NW_009646206.1:g.324402dup, NW_009646206.1:g.324401_324402dup, NW_009646206.1:g.324400_324402dup, NW_009646206.1:g.324397_324402dup

Select item 14911958172.

rs1491195817 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:40049233 (GRCh38)
19:40555140 (GRCh37)
Canonical SPDI:: NC_000019.10:40049232:CA:
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
-=0.00036/10 (TOMMO)
HGVS:: NC_000019.10:g.40049233_40049234del, NC_000019.9:g.40555140_40555141del, NW_009646206.1:g.324376_324377del

Select item 14910505183.

rs1491050518 has merged into rs527944024 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:40056670 (GRCh38)
19:40562577 (GRCh37)
Canonical SPDI:: NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:40056659:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF780B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.127196/637 (1000Genomes)
HGVS:: NC_000019.10:g.40056670_40056676del, NC_000019.10:g.40056671_40056676del, NC_000019.10:g.40056672_40056676del, NC_000019.10:g.40056673_40056676del, NC_000019.10:g.40056674_40056676del, NC_000019.10:g.40056675_40056676del, NC_000019.10:g.40056676del, NC_000019.10:g.40056676dup, NC_000019.10:g.40056675_40056676dup, NC_000019.10:g.40056674_40056676dup, NC_000019.10:g.40056673_40056676dup, NC_000019.10:g.40056672_40056676dup, NC_000019.10:g.40056670_40056676dup, NC_000019.10:g.40056669_40056676dup, NC_000019.10:g.40056668_40056676dup, NC_000019.10:g.40056665_40056676dup, NC_000019.9:g.40562577_40562583del, NC_000019.9:g.40562578_40562583del, NC_000019.9:g.40562579_40562583del, NC_000019.9:g.40562580_40562583del, NC_000019.9:g.40562581_40562583del, NC_000019.9:g.40562582_40562583del, NC_000019.9:g.40562583del, NC_000019.9:g.40562583dup, NC_000019.9:g.40562582_40562583dup, NC_000019.9:g.40562581_40562583dup, NC_000019.9:g.40562580_40562583dup, NC_000019.9:g.40562579_40562583dup, NC_000019.9:g.40562577_40562583dup, NC_000019.9:g.40562576_40562583dup, NC_000019.9:g.40562575_40562583dup, NC_000019.9:g.40562572_40562583dup, NW_009646206.1:g.331813_331819del, NW_009646206.1:g.331814_331819del, NW_009646206.1:g.331815_331819del, NW_009646206.1:g.331816_331819del, NW_009646206.1:g.331817_331819del, NW_009646206.1:g.331818_331819del, NW_009646206.1:g.331819del, NW_009646206.1:g.331819dup, NW_009646206.1:g.331818_331819dup, NW_009646206.1:g.331817_331819dup, NW_009646206.1:g.331816_331819dup, NW_009646206.1:g.331815_331819dup, NW_009646206.1:g.331813_331819dup, NW_009646206.1:g.331812_331819dup, NW_009646206.1:g.331811_331819dup, NW_009646206.1:g.331808_331819dup

Select item 14909274984.

rs1490927498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:40054051 (GRCh38)
19:40559958 (GRCh37)
Canonical SPDI:: NC_000019.10:40054050:G:C
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40054051G>C, NC_000019.9:g.40559958G>C, NW_009646206.1:g.329194G>C

Select item 14909181785.

rs1490918178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40054981 (GRCh38)
19:40560888 (GRCh37)
Canonical SPDI:: NC_000019.10:40054980:G:A
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.40054981G>A, NC_000019.9:g.40560888G>A, NW_009646206.1:g.330124G>A

Select item 14908058056.

rs1490805805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40045459 (GRCh38)
19:40551366 (GRCh37)
Canonical SPDI:: NC_000019.10:40045458:C:T
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.40045459C>T, NC_000019.9:g.40551366C>T, NW_009646206.1:g.320602C>T

Select item 14907377137.

rs1490737713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:40044131 (GRCh38)
19:40550038 (GRCh37)
Canonical SPDI:: NC_000019.10:40044130:T:C
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.40044131T>C, NC_000019.9:g.40550038T>C, NW_009646206.1:g.319274T>C

Select item 14906685138.

rs1490668513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40038007 (GRCh38)
19:40543914 (GRCh37)
Canonical SPDI:: NC_000019.10:40038006:C:T
Gene:: ZNF780B (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_000019.10:g.40038007C>T, NC_000019.9:g.40543914C>T, NW_009646206.1:g.313150C>T

Select item 14906440869.

rs1490644086 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 149054567110.

rs1490545671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40053609 (GRCh38)
19:40559516 (GRCh37)
Canonical SPDI:: NC_000019.10:40053608:C:T
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.40053609C>T, NC_000019.9:g.40559516C>T, NW_009646206.1:g.328752C>T

Select item 149043634411.

rs1490436344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40054504 (GRCh38)
19:40560411 (GRCh37)
Canonical SPDI:: NC_000019.10:40054503:C:T
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40054504C>T, NC_000019.9:g.40560411C>T, NW_009646206.1:g.329647C>T

Select item 149043403112.

rs1490434031 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:40029176 (GRCh38)
19:40535084 (GRCh37)
Canonical SPDI:: NC_000019.10:40029176:TT:TTT
Gene:: ZNF780B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40029178dup, NC_000019.9:g.40535085dup, NW_009646206.1:g.304321dup, XM_005258591.6:c.*5180dup, XM_005258590.5:c.*5180dup, XM_006723072.5:c.*5180dup, XM_005258592.4:c.*5180dup, XM_005258595.4:c.*5180dup, XM_005258593.3:c.*5180dup, XM_017026425.3:c.*5180dup, XM_011526593.3:c.*5180dup, NM_001005851.3:c.*5180dup, NM_001005851.2:c.*5180dup, XM_017026427.2:c.*5180dup, XM_017026426.2:c.*5180dup, XM_047438338.1:c.*5180dup, XM_047438339.1:c.*5180dup, XM_047438341.1:c.*5180dup, XM_047438340.1:c.*5180dup, XM_047438342.1:c.*5180dup, XM_047438337.1:c.*5180dup

Select item 149042851313.

rs1490428513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:40053758 (GRCh38)
19:40559665 (GRCh37)
Canonical SPDI:: NC_000019.10:40053757:G:A,NC_000019.10:40053757:G:C
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.40053758G>A, NC_000019.10:g.40053758G>C, NC_000019.9:g.40559665G>A, NC_000019.9:g.40559665G>C, NW_009646206.1:g.328901G>A, NW_009646206.1:g.328901G>C

Select item 149040267714.

rs1490402677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40056380 (GRCh38)
19:40562287 (GRCh37)
Canonical SPDI:: NC_000019.10:40056379:G:A
Gene:: ZNF780B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.40056380G>A, NC_000019.9:g.40562287G>A, NW_009646206.1:g.331523G>A

Select item 149024792615.

rs1490247926 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAT>- [Show Flanks]
Chromosome:: 19:40044826 (GRCh38)
19:40550733 (GRCh37)
Canonical SPDI:: NC_000019.10:40044823:ATGAT:AT
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40044826_40044828del, NC_000019.9:g.40550733_40550735del, NW_009646206.1:g.319969_319971del

Select item 149017753916.

rs1490177539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:40038421 (GRCh38)
19:40544328 (GRCh37)
Canonical SPDI:: NC_000019.10:40038420:T:C
Gene:: ZNF780B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40038421T>C, NC_000019.9:g.40544328T>C, NW_009646206.1:g.313564T>C

Select item 149002919017.

rs1490029190 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40058970 (GRCh38)
19:40564877 (GRCh37)
Canonical SPDI:: NC_000019.10:40058969:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.40058970G>A, NC_000019.9:g.40564877G>A, NW_009646206.1:g.334113G>A

Select item 148999433518.

rs1489994335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:40028589 (GRCh38)
19:40534496 (GRCh37)
Canonical SPDI:: NC_000019.10:40028588:G:T
Gene:: ZNF780B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40028589G>T, NC_000019.9:g.40534496G>T, NW_009646206.1:g.303732G>T, XM_005258591.6:c.*5768C>A, XM_005258590.5:c.*5768C>A, XM_006723072.5:c.*5768C>A, XM_005258592.4:c.*5768C>A, XM_005258595.4:c.*5768C>A, XM_005258593.3:c.*5768C>A, XM_017026425.3:c.*5768C>A, XM_011526593.3:c.*5768C>A, NM_001005851.3:c.*5768C>A, NM_001005851.2:c.*5768C>A, XM_017026427.2:c.*5768C>A, XM_017026426.2:c.*5768C>A, XM_047438338.1:c.*5768C>A, XM_047438339.1:c.*5768C>A, XM_047438341.1:c.*5768C>A, XM_047438340.1:c.*5768C>A, XM_047438342.1:c.*5768C>A, XM_047438337.1:c.*5768C>A

Select item 148994372919.

rs1489943729 [Homo sapiens]

Variant type:: DEL
Alleles:: ATGAGTTGATT>- [Show Flanks]
Chromosome:: 19:40029727 (GRCh38)
19:40535634 (GRCh37)
Canonical SPDI:: NC_000019.10:40029726:ATGAGTTGATT:
Gene:: ZNF780B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40029727_40029737del, NC_000019.9:g.40535634_40535644del, NW_009646206.1:g.304870_304880del, XM_005258591.6:c.*4620_*4630del, XM_005258590.5:c.*4620_*4630del, XM_006723072.5:c.*4620_*4630del, XM_005258592.4:c.*4620_*4630del, XM_005258595.4:c.*4620_*4630del, XM_005258593.3:c.*4620_*4630del, XM_017026425.3:c.*4620_*4630del, XM_011526593.3:c.*4620_*4630del, NM_001005851.3:c.*4620_*4630del, NM_001005851.2:c.*4620_*4630del, XM_017026427.2:c.*4620_*4630del, XM_017026426.2:c.*4620_*4630del, XM_047438338.1:c.*4620_*4630del, XM_047438339.1:c.*4620_*4630del, XM_047438341.1:c.*4620_*4630del, XM_047438340.1:c.*4620_*4630del, XM_047438342.1:c.*4620_*4630del, XM_047438337.1:c.*4620_*4630del

Select item 148989763720.

rs1489897637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:40036141 (GRCh38)
19:40542048 (GRCh37)
Canonical SPDI:: NC_000019.10:40036140:T:C
Gene:: ZNF780B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40036141T>C, NC_000019.9:g.40542048T>C, NW_009646206.1:g.311284T>C, XM_005258591.6:c.721A>G, XM_005258591.5:c.721A>G, XM_005258591.4:c.721A>G, XM_005258591.3:c.721A>G, XM_005258591.2:c.721A>G, XM_005258591.1:c.721A>G, XM_005258590.5:c.721A>G, XM_005258590.4:c.721A>G, XM_005258590.3:c.721A>G, XM_005258590.2:c.721A>G, XM_005258590.1:c.721A>G, XM_006723072.5:c.721A>G, XM_006723072.4:c.721A>G, XM_006723072.3:c.721A>G, XM_006723072.2:c.721A>G, XM_006723072.1:c.721A>G, XM_005258592.4:c.721A>G, XM_005258592.3:c.721A>G, XM_005258592.2:c.721A>G, XM_005258592.1:c.721A>G, XM_005258595.4:c.721A>G, XM_005258595.3:c.721A>G, XM_005258595.2:c.721A>G, XM_005258595.1:c.721A>G, XM_005258593.3:c.718A>G, XM_005258593.2:c.718A>G, XM_005258593.1:c.718A>G, XM_017026425.3:c.718A>G, XM_017026425.2:c.718A>G, XM_017026425.1:c.718A>G, XM_011526593.3:c.721A>G, XM_011526593.2:c.721A>G, XM_011526593.1:c.721A>G, NM_001005851.3:c.718A>G, NM_001005851.2:c.718A>G, XM_017026427.2:c.718A>G, XM_017026427.1:c.718A>G, XM_017026426.2:c.718A>G, XM_017026426.1:c.718A>G, XM_047438338.1:c.721A>G, XM_047438339.1:c.718A>G, XM_047438341.1:c.718A>G, XM_047438340.1:c.718A>G, XM_047438342.1:c.718A>G, XM_047438337.1:c.721A>G, XP_005258648.1:p.Lys241Glu, XP_005258647.1:p.Lys241Glu, XP_006723135.1:p.Lys241Glu, XP_005258649.1:p.Lys241Glu, XP_005258652.1:p.Lys241Glu, XP_005258650.1:p.Lys240Glu, XP_016881914.1:p.Lys240Glu, XP_011524895.1:p.Lys241Glu, NP_001005851.1:p.Lys240Glu, XP_016881916.1:p.Lys240Glu, XP_016881915.1:p.Lys240Glu, XP_047294294.1:p.Lys241Glu, XP_047294295.1:p.Lys240Glu, XP_047294297.1:p.Lys240Glu, XP_047294296.1:p.Lys240Glu, XP_047294298.1:p.Lys240Glu, XP_047294293.1:p.Lys241Glu

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