SNP Links for Protein (Select 530361370) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15410139 (GRCh38)
1:15736635 (GRCh37)
Canonical SPDI:: NC_000001.11:15410138:C:T
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_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_000001.11:g.15410139C>T, NC_000001.10:g.15736635C>T, NM_024329.6:c.168C>T, NM_024329.5:c.168C>T, XM_005246000.4:c.168C>T, XM_005246000.3:c.168C>T, XM_005246000.2:c.168C>T, XM_005246000.1:c.168C>T, XM_047430233.1:c.168C>T

Select item 14504660098.

rs1450466009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:15410267 (GRCh38)
1:15736763 (GRCh37)
Canonical SPDI:: NC_000001.11:15410266:A:T
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15410267A>T, NC_000001.10:g.15736763A>T, NM_024329.6:c.296A>T, NM_024329.5:c.296A>T, XM_005246000.4:c.296A>T, XM_005246000.3:c.296A>T, XM_005246000.2:c.296A>T, XM_005246000.1:c.296A>T, XM_047430233.1:c.296A>T, NP_077305.2:p.Lys99Met, XP_005246057.1:p.Lys99Met, XP_047286189.1:p.Lys99Met

Select item 14485785039.

rs1448578503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15410109 (GRCh38)
1:15736605 (GRCh37)
Canonical SPDI:: NC_000001.11:15410108:G:A
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.15410109G>A, NC_000001.10:g.15736605G>A, NM_024329.6:c.138G>A, NM_024329.5:c.138G>A, XM_005246000.4:c.138G>A, XM_005246000.3:c.138G>A, XM_005246000.2:c.138G>A, XM_005246000.1:c.138G>A, XM_047430233.1:c.138G>A

Select item 144775907010.

rs1447759070 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15428669 (GRCh38)
1:15755165 (GRCh37)
Canonical SPDI:: NC_000001.11:15428668:A:G
Gene:: EFHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15428669A>G, NC_000001.10:g.15755165A>G, NM_024329.6:c.668A>G, NM_024329.5:c.668A>G, XM_005246000.4:c.533A>G, XM_005246000.3:c.533A>G, XM_005246000.2:c.533A>G, XM_005246000.1:c.533A>G, NP_077305.2:p.Glu223Gly, XP_005246057.1:p.Glu178Gly

Select item 144588350211.

rs1445883502 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:15410051 (GRCh38)
1:15736547 (GRCh37)
Canonical SPDI:: NC_000001.11:15410050:A:G
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15410051A>G, NC_000001.10:g.15736547A>G, NM_024329.6:c.80A>G, NM_024329.5:c.80A>G, XM_005246000.4:c.80A>G, XM_005246000.3:c.80A>G, XM_005246000.2:c.80A>G, XM_005246000.1:c.80A>G, XM_047430233.1:c.80A>G, NP_077305.2:p.Gln27Arg, XP_005246057.1:p.Gln27Arg, XP_047286189.1:p.Gln27Arg

Select item 144061326412.

rs1440613264 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGG [Show Flanks]
Chromosome:: 1:15410084 (GRCh38)
1:15736581 (GRCh37)
Canonical SPDI:: NC_000001.11:15410084:GG:GGTGG
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GGTGG=0./0 (ALFA)
GGT=0.000004/1 (TOPMED)
GGT=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.15410086_15410087insTGG, NC_000001.10:g.15736582_15736583insTGG, NM_024329.6:c.115_116insTGG, NM_024329.5:c.115_116insTGG, XM_005246000.4:c.115_116insTGG, XM_005246000.3:c.115_116insTGG, XM_005246000.2:c.115_116insTGG, XM_005246000.1:c.115_116insTGG, XM_047430233.1:c.115_116insTGG, NP_077305.2:p.Gly39_Ala40insVal, XP_005246057.1:p.Gly39_Ala40insVal, XP_047286189.1:p.Gly39_Ala40insVal

Select item 143971182713.

rs1439711827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:15410158 (GRCh38)
1:15736654 (GRCh37)
Canonical SPDI:: NC_000001.11:15410157:G:T
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.15410158G>T, NC_000001.10:g.15736654G>T, NM_024329.6:c.187G>T, NM_024329.5:c.187G>T, XM_005246000.4:c.187G>T, XM_005246000.3:c.187G>T, XM_005246000.2:c.187G>T, XM_005246000.1:c.187G>T, XM_047430233.1:c.187G>T, NP_077305.2:p.Ala63Ser, XP_005246057.1:p.Ala63Ser, XP_047286189.1:p.Ala63Ser

Select item 143784416214.

rs1437844162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:15425939 (GRCh38)
1:15752435 (GRCh37)
Canonical SPDI:: NC_000001.11:15425938:C:A
Gene:: EFHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/2 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.15425939C>A, NC_000001.10:g.15752435C>A, NM_024329.6:c.377C>A, NM_024329.5:c.377C>A, XM_005246000.4:c.377C>A, XM_005246000.3:c.377C>A, XM_005246000.2:c.377C>A, XM_005246000.1:c.377C>A, XM_047430233.1:c.377C>A, NP_077305.2:p.Ala126Asp, XP_005246057.1:p.Ala126Asp, XP_047286189.1:p.Ala126Asp

Select item 143241705915.

rs1432417059 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:15428722 (GRCh38)
1:15755218 (GRCh37)
Canonical SPDI:: NC_000001.11:15428721:T:C
Gene:: EFHD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,terminator_codon_variant,stop_lost
HGVS:: NC_000001.11:g.15428722T>C, NC_000001.10:g.15755218T>C, NM_024329.6:c.721T>C, NM_024329.5:c.721T>C, XM_005246000.4:c.586T>C, XM_005246000.3:c.586T>C, XM_005246000.2:c.586T>C, XM_005246000.1:c.586T>C, NP_077305.2:p.Ter241Gln, XP_005246057.1:p.Ter196Gln

Select item 142640897516.

rs1426408975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15410247 (GRCh38)
1:15736743 (GRCh37)
Canonical SPDI:: NC_000001.11:15410246:G:A
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.15410247G>A, NC_000001.10:g.15736743G>A, NM_024329.6:c.276G>A, NM_024329.5:c.276G>A, XM_005246000.4:c.276G>A, XM_005246000.3:c.276G>A, XM_005246000.2:c.276G>A, XM_005246000.1:c.276G>A, XM_047430233.1:c.276G>A

Select item 142375683117.

rs1423756831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15410054 (GRCh38)
1:15736550 (GRCh37)
Canonical SPDI:: NC_000001.11:15410053:C:T
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000001.11:g.15410054C>T, NC_000001.10:g.15736550C>T, NM_024329.6:c.83C>T, NM_024329.5:c.83C>T, XM_005246000.4:c.83C>T, XM_005246000.3:c.83C>T, XM_005246000.2:c.83C>T, XM_005246000.1:c.83C>T, XM_047430233.1:c.83C>T, NP_077305.2:p.Pro28Leu, XP_005246057.1:p.Pro28Leu, XP_047286189.1:p.Pro28Leu

Select item 142247692018.

rs1422476920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:15410175 (GRCh38)
1:15736671 (GRCh37)
Canonical SPDI:: NC_000001.11:15410174:C:T
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.15410175C>T, NC_000001.10:g.15736671C>T, NM_024329.6:c.204C>T, NM_024329.5:c.204C>T, XM_005246000.4:c.204C>T, XM_005246000.3:c.204C>T, XM_005246000.2:c.204C>T, XM_005246000.1:c.204C>T, XM_047430233.1:c.204C>T

Select item 142046965019.

rs1420469650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:15409998 (GRCh38)
1:15736494 (GRCh37)
Canonical SPDI:: NC_000001.11:15409997:G:A
Gene:: EFHD2 (Varview), EFHD2-AS1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_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_000001.11:g.15409998G>A, NC_000001.10:g.15736494G>A, NM_024329.6:c.27G>A, NM_024329.5:c.27G>A, XM_005246000.4:c.27G>A, XM_005246000.3:c.27G>A, XM_005246000.2:c.27G>A, XM_005246000.1:c.27G>A, XM_047430233.1:c.27G>A

Select item 141563682820.

rs1415636828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:15425978 (GRCh38)
1:15752474 (GRCh37)
Canonical SPDI:: NC_000001.11:15425977:A:T
Gene:: EFHD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.15425978A>T, NC_000001.10:g.15752474A>T, NM_024329.6:c.416A>T, NM_024329.5:c.416A>T, XM_005246000.4:c.416A>T, XM_005246000.3:c.416A>T, XM_005246000.2:c.416A>T, XM_005246000.1:c.416A>T, XM_047430233.1:c.416A>T, NP_077305.2:p.Glu139Val, XP_005246057.1:p.Glu139Val, XP_047286189.1:p.Glu139Val

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