SNP Links for Protein (Select 13375632) - SNP

Links from Protein

Items: 1 to 20 of 437

<< First< Prev

Page of 22

Next >Last >>

Select item 14896354381.

rs1489635438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:176189238 (GRCh38)
2:177053966 (GRCh37)
Canonical SPDI:: NC_000002.12:176189237:T:A
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.176189238T>A, NC_000002.11:g.177053966T>A, NM_024501.3:c.437T>A, NM_024501.2:c.437T>A, XM_047444086.1:c.437T>A, NP_078777.1:p.Phe146Tyr, XP_047300042.1:p.Phe146Tyr

Select item 14866418762.

rs1486641876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:176190085 (GRCh38)
2:177054813 (GRCh37)
Canonical SPDI:: NC_000002.12:176190084:C:G,NC_000002.12:176190084:C:T
Gene:: HOXD1 (Varview), HAGLR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.176190085C>G, NC_000002.12:g.176190085C>T, NC_000002.11:g.177054813C>G, NC_000002.11:g.177054813C>T, NM_024501.3:c.930C>G, NM_024501.3:c.930C>T, NM_024501.2:c.930C>G, NM_024501.2:c.930C>T, XM_047444086.1:c.*250C>G, XM_047444086.1:c.*250C>T

Select item 14857533223.

rs1485753322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:176189174 (GRCh38)
2:177053902 (GRCh37)
Canonical SPDI:: NC_000002.12:176189173:G:C
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.001168/33 (TOMMO)
HGVS:: NC_000002.12:g.176189174G>C, NC_000002.11:g.177053902G>C, NM_024501.3:c.373G>C, NM_024501.2:c.373G>C, XM_047444086.1:c.373G>C, NP_078777.1:p.Ala125Pro, XP_047300042.1:p.Ala125Pro

Select item 14856293684.

rs1485629368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:176189137 (GRCh38)
2:177053865 (GRCh37)
Canonical SPDI:: NC_000002.12:176189136:G:A,NC_000002.12:176189136:G:C
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176189137G>A, NC_000002.12:g.176189137G>C, NC_000002.11:g.177053865G>A, NC_000002.11:g.177053865G>C, NM_024501.3:c.336G>A, NM_024501.3:c.336G>C, NM_024501.2:c.336G>A, NM_024501.2:c.336G>C, XM_047444086.1:c.336G>A, XM_047444086.1:c.336G>C

Select item 14817108905.

rs1481710890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:176190010 (GRCh38)
2:177054738 (GRCh37)
Canonical SPDI:: NC_000002.12:176190009:G:A
Gene:: HOXD1 (Varview), HAGLR (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_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_000002.12:g.176190010G>A, NC_000002.11:g.177054738G>A, NM_024501.3:c.855G>A, NM_024501.2:c.855G>A, XM_047444086.1:c.*175G>A

Select item 14750977466.

rs1475097746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:176189299 (GRCh38)
2:177054027 (GRCh37)
Canonical SPDI:: NC_000002.12:176189298:T:C
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176189299T>C, NC_000002.11:g.177054027T>C, NM_024501.3:c.498T>C, NM_024501.2:c.498T>C, XM_047444086.1:c.498T>C

Select item 14740140467.

rs1474014046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:176188807 (GRCh38)
2:177053535 (GRCh37)
Canonical SPDI:: NC_000002.12:176188806:C:A
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000002.12:g.176188807C>A, NC_000002.11:g.177053535C>A, NM_024501.3:c.6C>A, NM_024501.2:c.6C>A, XM_047444086.1:c.6C>A, NP_078777.1:p.Ser2Arg, XP_047300042.1:p.Ser2Arg

Select item 14727654428.

rs1472765442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176189382 (GRCh38)
2:177054110 (GRCh37)
Canonical SPDI:: NC_000002.12:176189381:C:T
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176189382C>T, NC_000002.11:g.177054110C>T, NM_024501.3:c.581C>T, NM_024501.2:c.581C>T, XM_047444086.1:c.581C>T, NP_078777.1:p.Pro194Leu, XP_047300042.1:p.Pro194Leu

Select item 14703908529.

rs1470390852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:176190091 (GRCh38)
2:177054819 (GRCh37)
Canonical SPDI:: NC_000002.12:176190090:T:C
Gene:: HOXD1 (Varview), HAGLR (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176190091T>C, NC_000002.11:g.177054819T>C, NM_024501.3:c.936T>C, NM_024501.2:c.936T>C, XM_047444086.1:c.*256T>C

Select item 146800842210.

rs1468008422 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:176188947 (GRCh38)
2:177053675 (GRCh37)
Canonical SPDI:: NC_000002.12:176188946:C:A
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.176188947C>A, NC_000002.11:g.177053675C>A, NM_024501.3:c.146C>A, NM_024501.2:c.146C>A, NR_033979.2:n.12G>T, NR_033979.1:n.12G>T, XM_047444086.1:c.146C>A, NP_078777.1:p.Ala49Asp, XP_047300042.1:p.Ala49Asp

Select item 146756240911.

rs1467562409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:176189278 (GRCh38)
2:177054006 (GRCh37)
Canonical SPDI:: NC_000002.12:176189277:A:T
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.176189278A>T, NC_000002.11:g.177054006A>T, NM_024501.3:c.477A>T, NM_024501.2:c.477A>T, XM_047444086.1:c.477A>T, NP_078777.1:p.Glu159Asp, XP_047300042.1:p.Glu159Asp

Select item 146550122712.

rs1465501227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:176189289 (GRCh38)
2:177054017 (GRCh37)
Canonical SPDI:: NC_000002.12:176189288:T:C
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176189289T>C, NC_000002.11:g.177054017T>C, NM_024501.3:c.488T>C, NM_024501.2:c.488T>C, XM_047444086.1:c.488T>C, NP_078777.1:p.Phe163Ser, XP_047300042.1:p.Phe163Ser

Select item 146283271113.

rs1462832711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:176189931 (GRCh38)
2:177054659 (GRCh37)
Canonical SPDI:: NC_000002.12:176189930:G:C
Gene:: HOXD1 (Varview), HAGLR (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176189931G>C, NC_000002.11:g.177054659G>C, NM_024501.3:c.776G>C, NM_024501.2:c.776G>C, XM_047444086.1:c.*96G>C, NP_078777.1:p.Arg259Pro

Select item 145967186414.

rs1459671864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:176189417 (GRCh38)
2:177054145 (GRCh37)
Canonical SPDI:: NC_000002.12:176189416:G:A
Gene:: HOXD1 (Varview), HAGLR (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000061/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.176189417G>A, NC_000002.11:g.177054145G>A, NM_024501.3:c.616G>A, NM_024501.2:c.616G>A, XM_047444086.1:c.616G>A, NP_078777.1:p.Glu206Lys, XP_047300042.1:p.Glu206Lys

Select item 145921709215.

rs1459217092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:176189255 (GRCh38)
2:177053983 (GRCh37)
Canonical SPDI:: NC_000002.12:176189254:G:T
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176189255G>T, NC_000002.11:g.177053983G>T, NM_024501.3:c.454G>T, NM_024501.2:c.454G>T, XM_047444086.1:c.454G>T, NP_078777.1:p.Val152Leu, XP_047300042.1:p.Val152Leu

Select item 145885939716.

rs1458859397 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:176189011 (GRCh38)
2:177053739 (GRCh37)
Canonical SPDI:: NC_000002.12:176189010:G:C
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000043/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176189011G>C, NC_000002.11:g.177053739G>C, NM_024501.3:c.210G>C, NM_024501.2:c.210G>C, XM_047444086.1:c.210G>C

Select item 145757477317.

rs1457574773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176189324 (GRCh38)
2:177054052 (GRCh37)
Canonical SPDI:: NC_000002.12:176189323:C:T
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176189324C>T, NC_000002.11:g.177054052C>T, NM_024501.3:c.523C>T, NM_024501.2:c.523C>T, XM_047444086.1:c.523C>T, NP_078777.1:p.Pro175Ser, XP_047300042.1:p.Pro175Ser

Select item 145637186918.

rs1456371869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:176188852 (GRCh38)
2:177053580 (GRCh37)
Canonical SPDI:: NC_000002.12:176188851:C:A,NC_000002.12:176188851:C:T
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.176188852C>A, NC_000002.12:g.176188852C>T, NC_000002.11:g.177053580C>A, NC_000002.11:g.177053580C>T, NM_024501.3:c.51C>A, NM_024501.3:c.51C>T, NM_024501.2:c.51C>A, NM_024501.2:c.51C>T, NR_033979.2:n.107G>T, NR_033979.2:n.107G>A, NR_033979.1:n.107G>T, NR_033979.1:n.107G>A, XM_047444086.1:c.51C>A, XM_047444086.1:c.51C>T, NR_106991.1:n.10C>A, NR_106991.1:n.10C>T

Select item 145597851819.

rs1455978518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:176189091 (GRCh38)
2:177053819 (GRCh37)
Canonical SPDI:: NC_000002.12:176189090:C:A,NC_000002.12:176189090:C:T
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176189091C>A, NC_000002.12:g.176189091C>T, NC_000002.11:g.177053819C>A, NC_000002.11:g.177053819C>T, NM_024501.3:c.290C>A, NM_024501.3:c.290C>T, NM_024501.2:c.290C>A, NM_024501.2:c.290C>T, XM_047444086.1:c.290C>A, XM_047444086.1:c.290C>T, NP_078777.1:p.Pro97His, NP_078777.1:p.Pro97Leu, XP_047300042.1:p.Pro97His, XP_047300042.1:p.Pro97Leu

Select item 145154327720.

rs1451543277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:176189144 (GRCh38)
2:177053872 (GRCh37)
Canonical SPDI:: NC_000002.12:176189143:T:C
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.176189144T>C, NC_000002.11:g.177053872T>C, NM_024501.3:c.343T>C, NM_024501.2:c.343T>C, XM_047444086.1:c.343T>C, NP_078777.1:p.Tyr115His, XP_047300042.1:p.Tyr115His

<< First< Prev

Page of 22

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 437

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity