SNP Links for Protein (Select 259906440) - SNP

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:139026724 (GRCh38)
7:138711470 (GRCh37)
Canonical SPDI:: NC_000007.14:139026723:G:C
Gene:: ZC3HAV1L (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.139026724G>C, NC_000007.13:g.138711470G>C, XM_011516688.4:c.870C>G, XM_011516688.3:c.870C>G, XM_011516688.2:c.870C>G, XM_011516688.1:c.870C>G, NM_080660.4:c.870C>G, NM_080660.3:c.870C>G

Select item 14754390619.

rs1475439061 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:139026723 (GRCh38)
7:138711469 (GRCh37)
Canonical SPDI:: NC_000007.14:139026722:T:G
Gene:: ZC3HAV1L (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.139026723T>G, NC_000007.13:g.138711469T>G, XM_011516688.4:c.871A>C, XM_011516688.3:c.871A>C, XM_011516688.2:c.871A>C, XM_011516688.1:c.871A>C, NM_080660.4:c.871A>C, NM_080660.3:c.871A>C, XP_011514990.1:p.Lys291Gln, NP_542391.2:p.Lys291Gln

Select item 147463657410.

rs1474636574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:139035881 (GRCh38)
7:138720627 (GRCh37)
Canonical SPDI:: NC_000007.14:139035880:G:A
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.139035881G>A, NC_000007.13:g.138720627G>A, XM_011516688.4:c.137C>T, XM_011516688.3:c.137C>T, XM_011516688.2:c.137C>T, XM_011516688.1:c.137C>T, NM_080660.4:c.137C>T, NM_080660.3:c.137C>T, XM_006716176.4:c.137C>T, XM_006716176.3:c.137C>T, XM_006716176.2:c.137C>T, XM_006716176.1:c.137C>T, XP_011514990.1:p.Pro46Leu, NP_542391.2:p.Pro46Leu, XP_006716239.1:p.Pro46Leu

Select item 147424027411.

rs1474240274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:139035944 (GRCh38)
7:138720690 (GRCh37)
Canonical SPDI:: NC_000007.14:139035943:T:G
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.139035944T>G, NC_000007.13:g.138720690T>G, XM_011516688.4:c.74A>C, XM_011516688.3:c.74A>C, XM_011516688.2:c.74A>C, XM_011516688.1:c.74A>C, NM_080660.4:c.74A>C, NM_080660.3:c.74A>C, XM_006716176.4:c.74A>C, XM_006716176.3:c.74A>C, XM_006716176.2:c.74A>C, XM_006716176.1:c.74A>C, XP_011514990.1:p.Asp25Ala, NP_542391.2:p.Asp25Ala, XP_006716239.1:p.Asp25Ala

Select item 147270078012.

rs1472700780 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:139035980 (GRCh38)
7:138720726 (GRCh37)
Canonical SPDI:: NC_000007.14:139035979:A:C
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000007.14:g.139035980A>C, NC_000007.13:g.138720726A>C, XM_011516688.4:c.38T>G, XM_011516688.3:c.38T>G, XM_011516688.2:c.38T>G, XM_011516688.1:c.38T>G, NM_080660.4:c.38T>G, NM_080660.3:c.38T>G, XM_006716176.4:c.38T>G, XM_006716176.3:c.38T>G, XM_006716176.2:c.38T>G, XM_006716176.1:c.38T>G, XP_011514990.1:p.Val13Gly, NP_542391.2:p.Val13Gly, XP_006716239.1:p.Val13Gly

Select item 147084016613.

rs1470840166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:139026712 (GRCh38)
7:138711458 (GRCh37)
Canonical SPDI:: NC_000007.14:139026711:G:A
Gene:: ZC3HAV1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.139026712G>A, NC_000007.13:g.138711458G>A, XM_011516688.4:c.882C>T, XM_011516688.3:c.882C>T, XM_011516688.2:c.882C>T, XM_011516688.1:c.882C>T, NM_080660.4:c.882C>T, NM_080660.3:c.882C>T

Select item 146963425914.

rs1469634259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:139036013 (GRCh38)
7:138720759 (GRCh37)
Canonical SPDI:: NC_000007.14:139036012:G:A
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000007.14:g.139036013G>A, NC_000007.13:g.138720759G>A, XM_011516688.4:c.5C>T, XM_011516688.3:c.5C>T, XM_011516688.2:c.5C>T, XM_011516688.1:c.5C>T, NM_080660.4:c.5C>T, NM_080660.3:c.5C>T, XM_006716176.4:c.5C>T, XM_006716176.3:c.5C>T, XM_006716176.2:c.5C>T, XM_006716176.1:c.5C>T, XP_011514990.1:p.Ala2Val, NP_542391.2:p.Ala2Val, XP_006716239.1:p.Ala2Val

Select item 146830882715.

rs1468308827 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:139035744 (GRCh38)
7:138720490 (GRCh37)
Canonical SPDI:: NC_000007.14:139035743:C:A
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000012/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.139035744C>A, NC_000007.13:g.138720490C>A, XM_011516688.4:c.274G>T, XM_011516688.3:c.274G>T, XM_011516688.2:c.274G>T, XM_011516688.1:c.274G>T, NM_080660.4:c.274G>T, NM_080660.3:c.274G>T, XM_006716176.4:c.274G>T, XM_006716176.3:c.274G>T, XM_006716176.2:c.274G>T, XM_006716176.1:c.274G>T, XP_011514990.1:p.Ala92Ser, NP_542391.2:p.Ala92Ser, XP_006716239.1:p.Ala92Ser

Select item 146677304016.

rs1466773040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:139026730 (GRCh38)
7:138711476 (GRCh37)
Canonical SPDI:: NC_000007.14:139026729:C:T
Gene:: ZC3HAV1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.139026730C>T, NC_000007.13:g.138711476C>T, XM_011516688.4:c.864G>A, XM_011516688.3:c.864G>A, XM_011516688.2:c.864G>A, XM_011516688.1:c.864G>A, NM_080660.4:c.864G>A, NM_080660.3:c.864G>A

Select item 146503656517.

rs1465036565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:139035958 (GRCh38)
7:138720704 (GRCh37)
Canonical SPDI:: NC_000007.14:139035957:G:A
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.139035958G>A, NC_000007.13:g.138720704G>A, XM_011516688.4:c.60C>T, XM_011516688.3:c.60C>T, XM_011516688.2:c.60C>T, XM_011516688.1:c.60C>T, NM_080660.4:c.60C>T, NM_080660.3:c.60C>T, XM_006716176.4:c.60C>T, XM_006716176.3:c.60C>T, XM_006716176.2:c.60C>T, XM_006716176.1:c.60C>T

Select item 146454398618.

rs1464543986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:139026763 (GRCh38)
7:138711509 (GRCh37)
Canonical SPDI:: NC_000007.14:139026762:T:G
Gene:: ZC3HAV1L (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000007.14:g.139026763T>G, NC_000007.13:g.138711509T>G, XM_011516688.4:c.831A>C, XM_011516688.3:c.831A>C, XM_011516688.2:c.831A>C, XM_011516688.1:c.831A>C, NM_080660.4:c.831A>C, NM_080660.3:c.831A>C, XM_006716176.4:c.*87A>C, XM_006716176.3:c.*87A>C, XM_006716176.2:c.*87A>C, XM_006716176.1:c.*87A>C

Select item 146033197219.

rs1460331972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:139035842 (GRCh38)
7:138720588 (GRCh37)
Canonical SPDI:: NC_000007.14:139035841:C:T
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.139035842C>T, NC_000007.13:g.138720588C>T, XM_011516688.4:c.176G>A, XM_011516688.3:c.176G>A, XM_011516688.2:c.176G>A, XM_011516688.1:c.176G>A, NM_080660.4:c.176G>A, NM_080660.3:c.176G>A, XM_006716176.4:c.176G>A, XM_006716176.3:c.176G>A, XM_006716176.2:c.176G>A, XM_006716176.1:c.176G>A, XP_011514990.1:p.Gly59Asp, NP_542391.2:p.Gly59Asp, XP_006716239.1:p.Gly59Asp

Select item 145802949020.

rs1458029490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:139035765 (GRCh38)
7:138720511 (GRCh37)
Canonical SPDI:: NC_000007.14:139035764:C:T
Gene:: ZC3HAV1L (Varview), LOC107986852 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000007.14:g.139035765C>T, NC_000007.13:g.138720511C>T, XM_011516688.4:c.253G>A, XM_011516688.3:c.253G>A, XM_011516688.2:c.253G>A, XM_011516688.1:c.253G>A, NM_080660.4:c.253G>A, NM_080660.3:c.253G>A, XM_006716176.4:c.253G>A, XM_006716176.3:c.253G>A, XM_006716176.2:c.253G>A, XM_006716176.1:c.253G>A, XP_011514990.1:p.Val85Met, NP_542391.2:p.Val85Met, XP_006716239.1:p.Val85Met

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