SNP Links for Protein (Select 530374955) - SNP

Links from Protein

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Select item 14866321091.

rs1486632109 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:121857056 (GRCh38)
3:121575903 (GRCh37)
Canonical SPDI:: NC_000003.12:121857055:A:G
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_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_000003.12:g.121857056A>G, NC_000003.11:g.121575903A>G, NM_018456.6:c.384A>G, NM_018456.5:c.384A>G, NM_018456.4:c.384A>G, XM_005247618.4:c.417A>G, XM_005247618.3:c.417A>G, XM_005247618.2:c.417A>G, XM_005247618.1:c.417A>G, XM_017006861.2:c.-7A>G, XM_017006861.1:c.-7A>G, XM_017006863.2:c.384A>G, XM_017006863.1:c.384A>G, NM_001320041.2:c.-7A>G, NM_001320041.1:c.-7A>G, XM_047448576.1:c.417A>G, XM_047448577.1:c.-7A>G

Select item 14840614762.

rs1484061476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:121854786 (GRCh38)
3:121573633 (GRCh37)
Canonical SPDI:: NC_000003.12:121854785:G:C
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.121854786G>C, NC_000003.11:g.121573633G>C, NM_018456.6:c.301G>C, NM_018456.5:c.301G>C, NM_018456.4:c.301G>C, XM_005247618.4:c.334G>C, XM_005247618.3:c.334G>C, XM_005247618.2:c.334G>C, XM_005247618.1:c.334G>C, XM_017006861.2:c.-90G>C, XM_017006861.1:c.-90G>C, XM_017006863.2:c.301G>C, XM_017006863.1:c.301G>C, XM_047448576.1:c.334G>C, NP_060926.2:p.Glu101Gln, XP_005247675.1:p.Glu112Gln, XP_016862352.1:p.Glu101Gln, XP_047304532.1:p.Glu112Gln

Select item 14825042983.

rs1482504298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:121886358 (GRCh38)
3:121605205 (GRCh37)
Canonical SPDI:: NC_000003.12:121886357:G:C
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_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_000003.12:g.121886358G>C, NC_000003.11:g.121605205G>C, NM_018456.6:c.753G>C, NM_018456.5:c.753G>C, NM_018456.4:c.753G>C, XM_005247618.4:c.786G>C, XM_005247618.3:c.786G>C, XM_005247618.2:c.786G>C, XM_005247618.1:c.786G>C, XM_017006861.2:c.363G>C, XM_017006861.1:c.363G>C, NM_001320041.2:c.363G>C, NM_001320041.1:c.363G>C, XM_047448576.1:c.786G>C, XM_047448577.1:c.363G>C

Select item 14758084864.

rs1475808486 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:121872683 (GRCh38)
3:121591530 (GRCh37)
Canonical SPDI:: NC_000003.12:121872682:A:T
Gene:: EAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.121872683A>T, NC_000003.11:g.121591530A>T, NM_018456.6:c.631A>T, NM_018456.5:c.631A>T, NM_018456.4:c.631A>T, XM_005247618.4:c.664A>T, XM_005247618.3:c.664A>T, XM_005247618.2:c.664A>T, XM_005247618.1:c.664A>T, XM_017006861.2:c.241A>T, XM_017006861.1:c.241A>T, XM_017006863.2:c.631A>T, XM_017006863.1:c.631A>T, NM_001320041.2:c.241A>T, NM_001320041.1:c.241A>T, XM_047448576.1:c.664A>T, XM_047448577.1:c.241A>T, NP_060926.2:p.Asn211Tyr, XP_005247675.1:p.Asn222Tyr, XP_016862350.1:p.Asn81Tyr, XP_016862352.1:p.Asn211Tyr, NP_001306970.1:p.Asn81Tyr, XP_047304532.1:p.Asn222Tyr, XP_047304533.1:p.Asn81Tyr

Select item 14717369545.

rs1471736954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:121854744 (GRCh38)
3:121573591 (GRCh37)
Canonical SPDI:: NC_000003.12:121854743:T:C
Gene:: EAF2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.121854744T>C, NC_000003.11:g.121573591T>C, NM_018456.6:c.259T>C, NM_018456.5:c.259T>C, NM_018456.4:c.259T>C, XM_005247618.4:c.292T>C, XM_005247618.3:c.292T>C, XM_005247618.2:c.292T>C, XM_005247618.1:c.292T>C, XM_017006861.2:c.-132T>C, XM_017006861.1:c.-132T>C, XM_017006863.2:c.259T>C, XM_017006863.1:c.259T>C, XM_047448576.1:c.292T>C, NP_060926.2:p.Cys87Arg, XP_005247675.1:p.Cys98Arg, XP_016862352.1:p.Cys87Arg, XP_047304532.1:p.Cys98Arg

Select item 14701771586.

rs1470177158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:121857128 (GRCh38)
3:121575975 (GRCh37)
Canonical SPDI:: NC_000003.12:121857127:A:G
Gene:: EAF2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.121857128A>G, NC_000003.11:g.121575975A>G, NM_018456.6:c.456A>G, NM_018456.5:c.456A>G, NM_018456.4:c.456A>G, XM_005247618.4:c.489A>G, XM_005247618.3:c.489A>G, XM_005247618.2:c.489A>G, XM_005247618.1:c.489A>G, XM_017006861.2:c.66A>G, XM_017006861.1:c.66A>G, XM_017006863.2:c.456A>G, XM_017006863.1:c.456A>G, NM_001320041.2:c.66A>G, NM_001320041.1:c.66A>G, XM_047448576.1:c.489A>G, XM_047448577.1:c.66A>G

Select item 14621154267.

rs1462115426 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 3:121857012 (GRCh38)
3:121575859 (GRCh37)
Canonical SPDI:: NC_000003.12:121857011:G:
Gene:: EAF2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.121857012del, NC_000003.11:g.121575859del, NM_018456.6:c.340del, NM_018456.5:c.340del, NM_018456.4:c.340del, XM_005247618.4:c.373del, XM_005247618.3:c.373del, XM_005247618.2:c.373del, XM_005247618.1:c.373del, XM_017006861.2:c.-51del, XM_017006861.1:c.-51del, XM_017006863.2:c.340del, XM_017006863.1:c.340del, NM_001320041.2:c.-51del, NM_001320041.1:c.-51del, XM_047448576.1:c.373del, XM_047448577.1:c.-51del, NP_060926.2:p.Val114fs, XP_005247675.1:p.Val125fs, XP_016862352.1:p.Val114fs, XP_047304532.1:p.Val125fs

Select item 14560896108.

rs1456089610 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:121872713 (GRCh38)
3:121591560 (GRCh37)
Canonical SPDI:: NC_000003.12:121872709:ACACA:ACA
Gene:: EAF2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.121872711CA[1], NC_000003.11:g.121591558CA[1], NM_018456.6:c.661_662del, NM_018456.5:c.661_662del, NM_018456.4:c.661_662del, XM_005247618.4:c.694_695del, XM_005247618.3:c.694_695del, XM_005247618.2:c.694_695del, XM_005247618.1:c.694_695del, XM_017006861.2:c.271_272del, XM_017006861.1:c.271_272del, XM_017006863.2:c.661_662del, XM_017006863.1:c.661_662del, NM_001320041.2:c.271_272del, NM_001320041.1:c.271_272del, XM_047448576.1:c.694_695del, XM_047448577.1:c.271_272del, NP_060926.2:p.Gln221fs, XP_005247675.1:p.Gln232fs, XP_016862350.1:p.Gln91fs, XP_016862352.1:p.Gln221fs, NP_001306970.1:p.Gln91fs, XP_047304532.1:p.Gln232fs, XP_047304533.1:p.Gln91fs

Select item 14550187989.

rs1455018798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:121872687 (GRCh38)
3:121591534 (GRCh37)
Canonical SPDI:: NC_000003.12:121872686:G:A,NC_000003.12:121872686:G:C,NC_000003.12:121872686:G:T
Gene:: EAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.121872687G>A, NC_000003.12:g.121872687G>C, NC_000003.12:g.121872687G>T, NC_000003.11:g.121591534G>A, NC_000003.11:g.121591534G>C, NC_000003.11:g.121591534G>T, NM_018456.6:c.635G>A, NM_018456.6:c.635G>C, NM_018456.6:c.635G>T, NM_018456.5:c.635G>A, NM_018456.5:c.635G>C, NM_018456.5:c.635G>T, NM_018456.4:c.635G>A, NM_018456.4:c.635G>C, NM_018456.4:c.635G>T, XM_005247618.4:c.668G>A, XM_005247618.4:c.668G>C, XM_005247618.4:c.668G>T, XM_005247618.3:c.668G>A, XM_005247618.3:c.668G>C, XM_005247618.3:c.668G>T, XM_005247618.2:c.668G>A, XM_005247618.2:c.668G>C, XM_005247618.2:c.668G>T, XM_005247618.1:c.668G>A, XM_005247618.1:c.668G>C, XM_005247618.1:c.668G>T, XM_017006861.2:c.245G>A, XM_017006861.2:c.245G>C, XM_017006861.2:c.245G>T, XM_017006861.1:c.245G>A, XM_017006861.1:c.245G>C, XM_017006861.1:c.245G>T, XM_017006863.2:c.635G>A, XM_017006863.2:c.635G>C, XM_017006863.2:c.635G>T, XM_017006863.1:c.635G>A, XM_017006863.1:c.635G>C, XM_017006863.1:c.635G>T, NM_001320041.2:c.245G>A, NM_001320041.2:c.245G>C, NM_001320041.2:c.245G>T, NM_001320041.1:c.245G>A, NM_001320041.1:c.245G>C, NM_001320041.1:c.245G>T, XM_047448576.1:c.668G>A, XM_047448576.1:c.668G>C, XM_047448576.1:c.668G>T, XM_047448577.1:c.245G>A, XM_047448577.1:c.245G>C, XM_047448577.1:c.245G>T, NP_060926.2:p.Cys212Tyr, NP_060926.2:p.Cys212Ser, NP_060926.2:p.Cys212Phe, XP_005247675.1:p.Cys223Tyr, XP_005247675.1:p.Cys223Ser, XP_005247675.1:p.Cys223Phe, XP_016862350.1:p.Cys82Tyr, XP_016862350.1:p.Cys82Ser, XP_016862350.1:p.Cys82Phe, XP_016862352.1:p.Cys212Tyr, XP_016862352.1:p.Cys212Ser, XP_016862352.1:p.Cys212Phe, NP_001306970.1:p.Cys82Tyr, NP_001306970.1:p.Cys82Ser, NP_001306970.1:p.Cys82Phe, XP_047304532.1:p.Cys223Tyr, XP_047304532.1:p.Cys223Ser, XP_047304532.1:p.Cys223Phe, XP_047304533.1:p.Cys82Tyr, XP_047304533.1:p.Cys82Ser, XP_047304533.1:p.Cys82Phe

Select item 144640688210.

rs1446406882 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTG [Show Flanks]
Chromosome:: 3:121836676 (GRCh38)
3:121555524 (GRCh37)
Canonical SPDI:: NC_000003.12:121836676:TCTG:TCTGTCTG
Gene:: IQCB1 (Varview), EAF2 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGTCTG=0./0 (ALFA)
TCTG=0.000008/2 (TOPMED)
TCTG=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.121836677_121836680dup, NC_000003.11:g.121555524_121555527dup, NG_015887.1:g.3400_3403dup, XM_005247618.4:c.22_25dup, XM_005247618.3:c.22_25dup, XM_005247618.2:c.22_25dup, XM_005247618.1:c.22_25dup, XM_047448576.1:c.22_25dup, XP_005247675.1:p.Ala9fs, XP_047304532.1:p.Ala9fs

Select item 143939129111.

rs1439391291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:121872552 (GRCh38)
3:121591399 (GRCh37)
Canonical SPDI:: NC_000003.12:121872551:C:T
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.121872552C>T, NC_000003.11:g.121591399C>T, NM_018456.6:c.500C>T, NM_018456.5:c.500C>T, NM_018456.4:c.500C>T, XM_005247618.4:c.533C>T, XM_005247618.3:c.533C>T, XM_005247618.2:c.533C>T, XM_005247618.1:c.533C>T, XM_017006861.2:c.110C>T, XM_017006861.1:c.110C>T, XM_017006863.2:c.500C>T, XM_017006863.1:c.500C>T, NM_001320041.2:c.110C>T, NM_001320041.1:c.110C>T, XM_047448576.1:c.533C>T, XM_047448577.1:c.110C>T, NP_060926.2:p.Ala167Val, XP_005247675.1:p.Ala178Val, XP_016862350.1:p.Ala37Val, XP_016862352.1:p.Ala167Val, NP_001306970.1:p.Ala37Val, XP_047304532.1:p.Ala178Val, XP_047304533.1:p.Ala37Val

Select item 143740897112.

rs1437408971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:121872775 (GRCh38)
3:121591622 (GRCh37)
Canonical SPDI:: NC_000003.12:121872774:G:A
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.121872775G>A, NC_000003.11:g.121591622G>A, NM_018456.6:c.723G>A, NM_018456.5:c.723G>A, NM_018456.4:c.723G>A, XM_005247618.4:c.756G>A, XM_005247618.3:c.756G>A, XM_005247618.2:c.756G>A, XM_005247618.1:c.756G>A, XM_017006861.2:c.333G>A, XM_017006861.1:c.333G>A, XM_017006863.2:c.723G>A, XM_017006863.1:c.723G>A, NM_001320041.2:c.333G>A, NM_001320041.1:c.333G>A, XM_047448576.1:c.756G>A, XM_047448577.1:c.333G>A

Select item 143560638413.

rs1435606384 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 3:121854709 (GRCh38)
3:121573556 (GRCh37)
Canonical SPDI:: NC_000003.12:121854708:TTTT:TTT
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.121854712del, NC_000003.11:g.121573559del, NM_018456.6:c.227del, NM_018456.5:c.227del, NM_018456.4:c.227del, XM_005247618.4:c.260del, XM_005247618.3:c.260del, XM_005247618.2:c.260del, XM_005247618.1:c.260del, XM_017006861.2:c.-164del, XM_017006861.1:c.-164del, XM_017006863.2:c.227del, XM_017006863.1:c.227del, XM_047448576.1:c.260del, NP_060926.2:p.Phe76fs, XP_005247675.1:p.Phe87fs, XP_016862352.1:p.Phe76fs, XP_047304532.1:p.Phe87fs

Select item 142931418814.

rs1429314188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:121872578 (GRCh38)
3:121591425 (GRCh37)
Canonical SPDI:: NC_000003.12:121872577:T:G
Gene:: EAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.121872578T>G, NC_000003.11:g.121591425T>G, NM_018456.6:c.526T>G, NM_018456.5:c.526T>G, NM_018456.4:c.526T>G, XM_005247618.4:c.559T>G, XM_005247618.3:c.559T>G, XM_005247618.2:c.559T>G, XM_005247618.1:c.559T>G, XM_017006861.2:c.136T>G, XM_017006861.1:c.136T>G, XM_017006863.2:c.526T>G, XM_017006863.1:c.526T>G, NM_001320041.2:c.136T>G, NM_001320041.1:c.136T>G, XM_047448576.1:c.559T>G, XM_047448577.1:c.136T>G, NP_060926.2:p.Cys176Gly, XP_005247675.1:p.Cys187Gly, XP_016862350.1:p.Cys46Gly, XP_016862352.1:p.Cys176Gly, NP_001306970.1:p.Cys46Gly, XP_047304532.1:p.Cys187Gly, XP_047304533.1:p.Cys46Gly

Select item 142760702215.

rs1427607022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:121872749 (GRCh38)
3:121591596 (GRCh37)
Canonical SPDI:: NC_000003.12:121872748:A:C
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.121872749A>C, NC_000003.11:g.121591596A>C, NM_018456.6:c.697A>C, NM_018456.5:c.697A>C, NM_018456.4:c.697A>C, XM_005247618.4:c.730A>C, XM_005247618.3:c.730A>C, XM_005247618.2:c.730A>C, XM_005247618.1:c.730A>C, XM_017006861.2:c.307A>C, XM_017006861.1:c.307A>C, XM_017006863.2:c.697A>C, XM_017006863.1:c.697A>C, NM_001320041.2:c.307A>C, NM_001320041.1:c.307A>C, XM_047448576.1:c.730A>C, XM_047448577.1:c.307A>C

Select item 142631855716.

rs1426318557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:121872780 (GRCh38)
3:121591627 (GRCh37)
Canonical SPDI:: NC_000003.12:121872779:A:G
Gene:: EAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.121872780A>G, NC_000003.11:g.121591627A>G, NM_018456.6:c.728A>G, NM_018456.5:c.728A>G, NM_018456.4:c.728A>G, XM_005247618.4:c.761A>G, XM_005247618.3:c.761A>G, XM_005247618.2:c.761A>G, XM_005247618.1:c.761A>G, XM_017006861.2:c.338A>G, XM_017006861.1:c.338A>G, XM_017006863.2:c.728A>G, XM_017006863.1:c.728A>G, NM_001320041.2:c.338A>G, NM_001320041.1:c.338A>G, XM_047448576.1:c.761A>G, XM_047448577.1:c.338A>G, NP_060926.2:p.Asn243Ser, XP_005247675.1:p.Asn254Ser, XP_016862350.1:p.Asn113Ser, XP_016862352.1:p.Asn243Ser, NP_001306970.1:p.Asn113Ser, XP_047304532.1:p.Asn254Ser, XP_047304533.1:p.Asn113Ser

Select item 141527679417.

rs1415276794 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:121872616 (GRCh38)
3:121591463 (GRCh37)
Canonical SPDI:: NC_000003.12:121872615:A:T
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000003.12:g.121872616A>T, NC_000003.11:g.121591463A>T, NM_018456.6:c.564A>T, NM_018456.5:c.564A>T, NM_018456.4:c.564A>T, XM_005247618.4:c.597A>T, XM_005247618.3:c.597A>T, XM_005247618.2:c.597A>T, XM_005247618.1:c.597A>T, XM_017006861.2:c.174A>T, XM_017006861.1:c.174A>T, XM_017006863.2:c.564A>T, XM_017006863.1:c.564A>T, NM_001320041.2:c.174A>T, NM_001320041.1:c.174A>T, XM_047448576.1:c.597A>T, XM_047448577.1:c.174A>T

Select item 141024700218.

rs1410247002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:121857126 (GRCh38)
3:121575973 (GRCh37)
Canonical SPDI:: NC_000003.12:121857125:C:T
Gene:: EAF2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.121857126C>T, NC_000003.11:g.121575973C>T, NM_018456.6:c.454C>T, NM_018456.5:c.454C>T, NM_018456.4:c.454C>T, XM_005247618.4:c.487C>T, XM_005247618.3:c.487C>T, XM_005247618.2:c.487C>T, XM_005247618.1:c.487C>T, XM_017006861.2:c.64C>T, XM_017006861.1:c.64C>T, XM_017006863.2:c.454C>T, XM_017006863.1:c.454C>T, NM_001320041.2:c.64C>T, NM_001320041.1:c.64C>T, XM_047448576.1:c.487C>T, XM_047448577.1:c.64C>T, NP_060926.2:p.Pro152Ser, XP_005247675.1:p.Pro163Ser, XP_016862350.1:p.Pro22Ser, XP_016862352.1:p.Pro152Ser, NP_001306970.1:p.Pro22Ser, XP_047304532.1:p.Pro163Ser, XP_047304533.1:p.Pro22Ser

Select item 140806715519.

rs1408067155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:121857051 (GRCh38)
3:121575898 (GRCh37)
Canonical SPDI:: NC_000003.12:121857050:C:T
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.121857051C>T, NC_000003.11:g.121575898C>T, NM_018456.6:c.379C>T, NM_018456.5:c.379C>T, NM_018456.4:c.379C>T, XM_005247618.4:c.412C>T, XM_005247618.3:c.412C>T, XM_005247618.2:c.412C>T, XM_005247618.1:c.412C>T, XM_017006861.2:c.-12C>T, XM_017006861.1:c.-12C>T, XM_017006863.2:c.379C>T, XM_017006863.1:c.379C>T, NM_001320041.2:c.-12C>T, NM_001320041.1:c.-12C>T, XM_047448576.1:c.412C>T, XM_047448577.1:c.-12C>T, NP_060926.2:p.Gln127Ter, XP_005247675.1:p.Gln138Ter, XP_016862352.1:p.Gln127Ter, XP_047304532.1:p.Gln138Ter

Select item 140566025620.

rs1405660256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:121844484 (GRCh38)
3:121563331 (GRCh37)
Canonical SPDI:: NC_000003.12:121844483:T:C
Gene:: EAF2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.121844484T>C, NC_000003.11:g.121563331T>C, NM_018456.6:c.138T>C, NM_018456.5:c.138T>C, NM_018456.4:c.138T>C, XM_005247618.4:c.171T>C, XM_005247618.3:c.171T>C, XM_005247618.2:c.171T>C, XM_005247618.1:c.171T>C, XM_017006861.2:c.-253T>C, XM_017006861.1:c.-253T>C, XM_017006863.2:c.138T>C, XM_017006863.1:c.138T>C, NM_001320041.2:c.-116T>C, NM_001320041.1:c.-116T>C, XM_047448576.1:c.171T>C, XM_047448577.1:c.-116T>C

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