SNP Links for Gene (Select 79175) - SNP

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Select item 14915738421.

rs1491573842 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:2512919 (GRCh38)
20:2493565 (GRCh37)
Canonical SPDI:: NC_000020.11:2512918:CA:
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/4 (GnomAD)
HGVS:: NC_000020.11:g.2512919_2512920del, NC_000020.10:g.2493565_2493566del

Select item 14914256642.

rs1491425664 has merged into rs56905669 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:2525933 (GRCh38)
20:2506579 (GRCh37)
Canonical SPDI:: NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2525920:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF343 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.2525933_2525951del, NC_000020.11:g.2525934_2525951del, NC_000020.11:g.2525935_2525951del, NC_000020.11:g.2525936_2525951del, NC_000020.11:g.2525937_2525951del, NC_000020.11:g.2525938_2525951del, NC_000020.11:g.2525939_2525951del, NC_000020.11:g.2525940_2525951del, NC_000020.11:g.2525941_2525951del, NC_000020.11:g.2525942_2525951del, NC_000020.11:g.2525943_2525951del, NC_000020.11:g.2525944_2525951del, NC_000020.11:g.2525945_2525951del, NC_000020.11:g.2525946_2525951del, NC_000020.11:g.2525947_2525951del, NC_000020.11:g.2525948_2525951del, NC_000020.11:g.2525949_2525951del, NC_000020.11:g.2525950_2525951del, NC_000020.11:g.2525951del, NC_000020.11:g.2525951dup, NC_000020.11:g.2525950_2525951dup, NC_000020.11:g.2525949_2525951dup, NC_000020.11:g.2525948_2525951dup, NC_000020.11:g.2525947_2525951dup, NC_000020.11:g.2525946_2525951dup, NC_000020.11:g.2525945_2525951dup, NC_000020.11:g.2525943_2525951dup, NC_000020.11:g.2525940_2525951dup, NC_000020.11:g.2525932_2525951dup, NC_000020.11:g.2525925_2525951dup, NC_000020.10:g.2506579_2506597del, NC_000020.10:g.2506580_2506597del, NC_000020.10:g.2506581_2506597del, NC_000020.10:g.2506582_2506597del, NC_000020.10:g.2506583_2506597del, NC_000020.10:g.2506584_2506597del, NC_000020.10:g.2506585_2506597del, NC_000020.10:g.2506586_2506597del, NC_000020.10:g.2506587_2506597del, NC_000020.10:g.2506588_2506597del, NC_000020.10:g.2506589_2506597del, NC_000020.10:g.2506590_2506597del, NC_000020.10:g.2506591_2506597del, NC_000020.10:g.2506592_2506597del, NC_000020.10:g.2506593_2506597del, NC_000020.10:g.2506594_2506597del, NC_000020.10:g.2506595_2506597del, NC_000020.10:g.2506596_2506597del, NC_000020.10:g.2506597del, NC_000020.10:g.2506597dup, NC_000020.10:g.2506596_2506597dup, NC_000020.10:g.2506595_2506597dup, NC_000020.10:g.2506594_2506597dup, NC_000020.10:g.2506593_2506597dup, NC_000020.10:g.2506592_2506597dup, NC_000020.10:g.2506591_2506597dup, NC_000020.10:g.2506589_2506597dup, NC_000020.10:g.2506586_2506597dup, NC_000020.10:g.2506578_2506597dup, NC_000020.10:g.2506571_2506597dup

Select item 14913787273.

rs1491378727 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:2525920 (GRCh38)
20:2506566 (GRCh37)
Canonical SPDI:: NC_000020.11:2525919:CA:
Gene:: ZNF343 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.2525920_2525921del, NC_000020.10:g.2506566_2506567del

Select item 14912297644.

rs1491229764 [Homo sapiens]

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

Select item 14911703085.

rs1491170308 has merged into rs71193970 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:2512931 (GRCh38)
20:2493577 (GRCh37)
Canonical SPDI:: NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:2512919:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF343 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.3748/1877 (1000Genomes)
HGVS:: NC_000020.11:g.2512931_2512939del, NC_000020.11:g.2512932_2512939del, NC_000020.11:g.2512933_2512939del, NC_000020.11:g.2512934_2512939del, NC_000020.11:g.2512935_2512939del, NC_000020.11:g.2512936_2512939del, NC_000020.11:g.2512937_2512939del, NC_000020.11:g.2512938_2512939del, NC_000020.11:g.2512939del, NC_000020.11:g.2512939dup, NC_000020.11:g.2512938_2512939dup, NC_000020.11:g.2512937_2512939dup, NC_000020.11:g.2512932_2512939dup, NC_000020.10:g.2493577_2493585del, NC_000020.10:g.2493578_2493585del, NC_000020.10:g.2493579_2493585del, NC_000020.10:g.2493580_2493585del, NC_000020.10:g.2493581_2493585del, NC_000020.10:g.2493582_2493585del, NC_000020.10:g.2493583_2493585del, NC_000020.10:g.2493584_2493585del, NC_000020.10:g.2493585del, NC_000020.10:g.2493585dup, NC_000020.10:g.2493584_2493585dup, NC_000020.10:g.2493583_2493585dup, NC_000020.10:g.2493578_2493585dup

Select item 14910456656.

rs1491045665 has merged into rs3051730 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:2523690 (GRCh38)
20:2504336 (GRCh37)
Canonical SPDI:: NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:2523677:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF343 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2523690_2523698del, NC_000020.11:g.2523691_2523698del, NC_000020.11:g.2523695_2523698del, NC_000020.11:g.2523697_2523698del, NC_000020.11:g.2523698del, NC_000020.11:g.2523698dup, NC_000020.11:g.2523697_2523698dup, NC_000020.11:g.2523696_2523698dup, NC_000020.11:g.2523695_2523698dup, NC_000020.11:g.2523694_2523698dup, NC_000020.11:g.2523693_2523698dup, NC_000020.11:g.2523692_2523698dup, NC_000020.11:g.2523691_2523698dup, NC_000020.11:g.2523690_2523698dup, NC_000020.11:g.2523688_2523698dup, NC_000020.11:g.2523698_2523699insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.2523698_2523699insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2504336_2504344del, NC_000020.10:g.2504337_2504344del, NC_000020.10:g.2504341_2504344del, NC_000020.10:g.2504343_2504344del, NC_000020.10:g.2504344del, NC_000020.10:g.2504344dup, NC_000020.10:g.2504343_2504344dup, NC_000020.10:g.2504342_2504344dup, NC_000020.10:g.2504341_2504344dup, NC_000020.10:g.2504340_2504344dup, NC_000020.10:g.2504339_2504344dup, NC_000020.10:g.2504338_2504344dup, NC_000020.10:g.2504337_2504344dup, NC_000020.10:g.2504336_2504344dup, NC_000020.10:g.2504334_2504344dup, NC_000020.10:g.2504344_2504345insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.2504344_2504345insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909788837.

rs1490978883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:2490641 (GRCh38)
20:2471287 (GRCh37)
Canonical SPDI:: NC_000020.11:2490640:G:A,NC_000020.11:2490640:G:C
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2490641G>A, NC_000020.11:g.2490641G>C, NC_000020.10:g.2471287G>A, NC_000020.10:g.2471287G>C

Select item 14909206588.

rs1490920658 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:2508047 (GRCh38)
20:2488693 (GRCh37)
Canonical SPDI:: NC_000020.11:2508046:A:G
Gene:: ZNF343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2508047A>G, NC_000020.10:g.2488693A>G

Select item 14908866779.

rs1490886677 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:2492684 (GRCh38)
20:2473330 (GRCh37)
Canonical SPDI:: NC_000020.11:2492683:A:C
Gene:: ZNF343 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2492684A>C, NC_000020.10:g.2473330A>C

Select item 149087633810.

rs1490876338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2489836 (GRCh38)
20:2470482 (GRCh37)
Canonical SPDI:: NC_000020.11:2489835:C:T
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.2489836C>T, NC_000020.10:g.2470482C>T

Select item 149081527211.

rs1490815272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:2508892 (GRCh38)
20:2489538 (GRCh37)
Canonical SPDI:: NC_000020.11:2508891:T:A
Gene:: ZNF343 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.2508892T>A, NC_000020.10:g.2489538T>A, NM_024325.6:c.-248A>T, NM_024325.5:c.-248A>T, NM_024325.4:c.-248A>T, NM_001282499.3:c.-248A>T, NM_001282499.2:c.-248A>T, NM_001282499.1:c.-248A>T, NM_001321801.2:c.-329A>T, NM_001321801.1:c.-329A>T, NM_001321803.2:c.-329A>T, NM_001321803.1:c.-329A>T, NM_001282497.2:c.-248A>T, NM_001282497.1:c.-248A>T, NM_001321802.2:c.-248A>T, NM_001321802.1:c.-248A>T, NM_001321800.2:c.-329A>T, NM_001321800.1:c.-329A>T, NM_001321805.2:c.-248A>T, NM_001321805.1:c.-248A>T, NM_001282496.2:c.-206A>T, NM_001282496.1:c.-206A>T, NM_001282498.2:c.-192A>T, NM_001282498.1:c.-192A>T, XM_047440475.1:c.-393A>T, XM_047440479.1:c.-474A>T, XM_047440478.1:c.-393A>T, XM_047440480.1:c.-393A>T, XM_047440477.1:c.-329A>T

Select item 149057559412.

rs1490575594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:2498896 (GRCh38)
20:2479542 (GRCh37)
Canonical SPDI:: NC_000020.11:2498895:G:C
Gene:: ZNF343 (Varview)
Functional Consequence:: intron_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_000020.11:g.2498896G>C, NC_000020.10:g.2479542G>C

Select item 149055991613.

rs1490559916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2497970 (GRCh38)
20:2478616 (GRCh37)
Canonical SPDI:: NC_000020.11:2497969:T:C
Gene:: ZNF343 (Varview)
Functional Consequence:: intron_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_000020.11:g.2497970T>C, NC_000020.10:g.2478616T>C

Select item 149055693514.

rs1490556935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2483210 (GRCh38)
20:2463856 (GRCh37)
Canonical SPDI:: NC_000020.11:2483209:C:T
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.2483210C>T, NC_000020.10:g.2463856C>T, NM_024325.6:c.1751G>A, NM_024325.5:c.1751G>A, NM_024325.4:c.1751G>A, NM_001321801.2:c.1874G>A, NM_001321801.1:c.1874G>A, NM_001321803.2:c.1871G>A, NM_001321803.1:c.1871G>A, NM_001282497.2:c.1874G>A, NM_001282497.1:c.1874G>A, NM_001321802.2:c.1871G>A, NM_001321802.1:c.1871G>A, NM_001321800.2:c.1751G>A, NM_001321800.1:c.1751G>A, NM_001321805.2:c.1748G>A, NM_001321805.1:c.1748G>A, NM_001282496.2:c.1751G>A, NM_001282496.1:c.1751G>A, NM_001282498.2:c.1481G>A, NM_001282498.1:c.1481G>A, XM_047440474.1:c.1871G>A, XM_047440475.1:c.1811G>A, XM_047440476.1:c.1751G>A, XM_047440479.1:c.1691G>A, NM_001282495.1:c.1751G>A, XM_047440478.1:c.1691G>A, XM_047440480.1:c.1688G>A, XM_047440477.1:c.1748G>A, NM_052881.1:c.1127G>A, NP_077301.4:p.Arg584Gln, NP_001308730.1:p.Arg625Gln, NP_001308732.1:p.Arg624Gln, NP_001269426.1:p.Arg625Gln, NP_001308731.1:p.Arg624Gln, NP_001308729.1:p.Arg584Gln, NP_001308734.1:p.Arg583Gln, NP_001269425.1:p.Arg584Gln, NP_001269427.1:p.Arg494Gln, XP_047296430.1:p.Arg624Gln, XP_047296431.1:p.Arg604Gln, XP_047296432.1:p.Arg584Gln, XP_047296435.1:p.Arg564Gln, NP_001269424.1:p.Arg584Gln, XP_047296434.1:p.Arg564Gln, XP_047296436.1:p.Arg563Gln, XP_047296433.1:p.Arg583Gln

Select item 149048899515.

rs1490488995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2490325 (GRCh38)
20:2470971 (GRCh37)
Canonical SPDI:: NC_000020.11:2490324:G:A
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000020.11:g.2490325G>A, NC_000020.10:g.2470971G>A

Select item 149038514116.

rs1490385141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:2488695 (GRCh38)
20:2469341 (GRCh37)
Canonical SPDI:: NC_000020.11:2488694:T:C
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.2488695T>C, NC_000020.10:g.2469341T>C

Select item 149033735217.

rs1490337352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:2514961 (GRCh38)
20:2495607 (GRCh37)
Canonical SPDI:: NC_000020.11:2514960:G:A
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000020.11:g.2514961G>A, NC_000020.10:g.2495607G>A

Select item 149027005118.

rs1490270051 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:2513561 (GRCh38)
20:2494207 (GRCh37)
Canonical SPDI:: NC_000020.11:2513560:A:T
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.2513561A>T, NC_000020.10:g.2494207A>T

Select item 149007037319.

rs1490070373 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:2484497 (GRCh38)
20:2465143 (GRCh37)
Canonical SPDI:: NC_000020.11:2484496:C:G
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.2484497C>G, NC_000020.10:g.2465143C>G, NM_024325.6:c.464G>C, NM_024325.5:c.464G>C, NM_024325.4:c.464G>C, NM_001321801.2:c.587G>C, NM_001321801.1:c.587G>C, NM_001321803.2:c.584G>C, NM_001321803.1:c.584G>C, NM_001282497.2:c.587G>C, NM_001282497.1:c.587G>C, NM_001321802.2:c.584G>C, NM_001321802.1:c.584G>C, NM_001321800.2:c.464G>C, NM_001321800.1:c.464G>C, NM_001321805.2:c.461G>C, NM_001321805.1:c.461G>C, NM_001282496.2:c.464G>C, NM_001282496.1:c.464G>C, NM_001282498.2:c.194G>C, NM_001282498.1:c.194G>C, XM_047440474.1:c.584G>C, XM_047440475.1:c.524G>C, XM_047440476.1:c.464G>C, XM_047440479.1:c.404G>C, NM_001282495.1:c.464G>C, XM_047440478.1:c.404G>C, XM_047440480.1:c.401G>C, XM_047440477.1:c.461G>C, NM_052881.1:c.-161G>C, NP_077301.4:p.Gly155Ala, NP_001308730.1:p.Gly196Ala, NP_001308732.1:p.Gly195Ala, NP_001269426.1:p.Gly196Ala, NP_001308731.1:p.Gly195Ala, NP_001308729.1:p.Gly155Ala, NP_001308734.1:p.Gly154Ala, NP_001269425.1:p.Gly155Ala, NP_001269427.1:p.Gly65Ala, XP_047296430.1:p.Gly195Ala, XP_047296431.1:p.Gly175Ala, XP_047296432.1:p.Gly155Ala, XP_047296435.1:p.Gly135Ala, NP_001269424.1:p.Gly155Ala, XP_047296434.1:p.Gly135Ala, XP_047296436.1:p.Gly134Ala, XP_047296433.1:p.Gly154Ala

Select item 148995013520.

rs1489950135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:2488905 (GRCh38)
20:2469551 (GRCh37)
Canonical SPDI:: NC_000020.11:2488904:C:T
Gene:: ZNF343 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000020.11:g.2488905C>T, NC_000020.10:g.2469551C>T

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