SNP Links for Protein (Select 21702735) - SNP

Links from Protein

Items: 1 to 20 of 414

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Select item 14862378531.

rs1486237853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:113433813 (GRCh38)
13:114088128 (GRCh37)
Canonical SPDI:: NC_000013.11:113433812:T:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.113433813T>A, NC_000013.10:g.114088128T>A, NM_138430.5:c.434A>T, NM_138430.4:c.434A>T, NM_138430.3:c.434A>T, NM_199162.3:c.188A>T, NM_199162.2:c.188A>T, NM_199162.1:c.188A>T, XM_047430086.1:c.188A>T, NM_001394807.1:c.434A>T, NP_612439.2:p.Lys145Met, NP_954631.1:p.Lys63Met, XP_047286042.1:p.Lys63Met, NP_001381736.1:p.Lys145Met

Select item 14860692742.

rs1486069274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:113453270 (GRCh38)
13:114107585 (GRCh37)
Canonical SPDI:: NC_000013.11:113453269:A:G
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.113453270A>G, NC_000013.10:g.114107585A>G, NM_138430.5:c.168T>C, NM_138430.4:c.168T>C, NM_138430.3:c.168T>C, NM_001394807.1:c.168T>C

Select item 14817362323.

rs1481736232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:113453371 (GRCh38)
13:114107686 (GRCh37)
Canonical SPDI:: NC_000013.11:113453370:A:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_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_000013.11:g.113453371A>T, NC_000013.10:g.114107686A>T, NM_138430.5:c.67T>A, NM_138430.4:c.67T>A, NM_138430.3:c.67T>A, NM_001394807.1:c.67T>A, NP_612439.2:p.Cys23Ser, NP_001381736.1:p.Cys23Ser

Select item 14816366854.

rs1481636685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:113444560 (GRCh38)
13:114098875 (GRCh37)
Canonical SPDI:: NC_000013.11:113444559:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,5_prime_UTR_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_000013.11:g.113444560C>T, NC_000013.10:g.114098875C>T, NM_138430.5:c.244G>A, NM_138430.4:c.244G>A, NM_138430.3:c.244G>A, NM_199162.3:c.-3G>A, NM_199162.2:c.-3G>A, NM_199162.1:c.-3G>A, XM_047430086.1:c.-3G>A, NM_001394807.1:c.244G>A, NP_612439.2:p.Glu82Lys, NP_001381736.1:p.Glu82Lys

Select item 14811330205.

rs1481133020 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:113425090 (GRCh38)
13:114079405 (GRCh37)
Canonical SPDI:: NC_000013.11:113425089:T:C
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000077/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.113425090T>C, NC_000013.10:g.114079405T>C, NM_138430.5:c.736A>G, NM_138430.4:c.736A>G, NM_138430.3:c.736A>G, NM_199162.3:c.490A>G, NM_199162.2:c.490A>G, NM_199162.1:c.490A>G, XM_047430086.1:c.490A>G, NM_001394807.1:c.736A>G, NP_612439.2:p.Ile246Val, NP_954631.1:p.Ile164Val, XP_047286042.1:p.Ile164Val, NP_001381736.1:p.Ile246Val

Select item 14757228196.

rs1475722819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:113433774 (GRCh38)
13:114088089 (GRCh37)
Canonical SPDI:: NC_000013.11:113433773:T:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000096/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.113433774T>A, NC_000013.10:g.114088089T>A, NM_138430.5:c.473A>T, NM_138430.4:c.473A>T, NM_138430.3:c.473A>T, NM_199162.3:c.227A>T, NM_199162.2:c.227A>T, NM_199162.1:c.227A>T, XM_047430086.1:c.227A>T, NM_001394807.1:c.473A>T, NP_612439.2:p.Glu158Val, NP_954631.1:p.Glu76Val, XP_047286042.1:p.Glu76Val, NP_001381736.1:p.Glu158Val

Select item 14741448837.

rs1474144883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 13:113444487 (GRCh38)
13:114098802 (GRCh37)
Canonical SPDI:: NC_000013.11:113444486:C:A,NC_000013.11:113444486:C:G
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.113444487C>A, NC_000013.11:g.113444487C>G, NC_000013.10:g.114098802C>A, NC_000013.10:g.114098802C>G, NM_138430.5:c.317G>T, NM_138430.5:c.317G>C, NM_138430.4:c.317G>T, NM_138430.4:c.317G>C, NM_138430.3:c.317G>T, NM_138430.3:c.317G>C, NM_199162.3:c.71G>T, NM_199162.3:c.71G>C, NM_199162.2:c.71G>T, NM_199162.2:c.71G>C, NM_199162.1:c.71G>T, NM_199162.1:c.71G>C, XM_047430086.1:c.71G>T, XM_047430086.1:c.71G>C, NM_001394807.1:c.317G>T, NM_001394807.1:c.317G>C, NP_612439.2:p.Gly106Val, NP_612439.2:p.Gly106Ala, NP_954631.1:p.Gly24Val, NP_954631.1:p.Gly24Ala, XP_047286042.1:p.Gly24Val, XP_047286042.1:p.Gly24Ala, NP_001381736.1:p.Gly106Val, NP_001381736.1:p.Gly106Ala

Select item 14711883868.

rs1471188386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113453348 (GRCh38)
13:114107663 (GRCh37)
Canonical SPDI:: NC_000013.11:113453347:G:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.113453348G>A, NC_000013.10:g.114107663G>A, NM_138430.5:c.90C>T, NM_138430.4:c.90C>T, NM_138430.3:c.90C>T, NM_001394807.1:c.90C>T

Select item 14686429639.

rs1468642963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:113433824 (GRCh38)
13:114088139 (GRCh37)
Canonical SPDI:: NC_000013.11:113433823:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.113433824C>T, NC_000013.10:g.114088139C>T, NM_138430.5:c.423G>A, NM_138430.4:c.423G>A, NM_138430.3:c.423G>A, NM_199162.3:c.177G>A, NM_199162.2:c.177G>A, NM_199162.1:c.177G>A, XM_047430086.1:c.177G>A, NM_001394807.1:c.423G>A

Select item 146312841710.

rs1463128417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113424322 (GRCh38)
13:114078637 (GRCh37)
Canonical SPDI:: NC_000013.11:113424321:G:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000071/1 (TOMMO)
HGVS:: NC_000013.11:g.113424322G>A, NC_000013.10:g.114078637G>A, NM_138430.5:c.802C>T, NM_138430.4:c.802C>T, NM_138430.3:c.802C>T, NM_199162.3:c.556C>T, NM_199162.2:c.556C>T, NM_199162.1:c.556C>T, XM_047430086.1:c.556C>T, NM_001394807.1:c.802C>T, NP_612439.2:p.Arg268Ter, NP_954631.1:p.Arg186Ter, XP_047286042.1:p.Arg186Ter, NP_001381736.1:p.Arg268Ter

Select item 146237514311.

rs1462375143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:113453432 (GRCh38)
13:114107747 (GRCh37)
Canonical SPDI:: NC_000013.11:113453431:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.113453432C>T, NC_000013.10:g.114107747C>T, NM_138430.5:c.6G>A, NM_138430.4:c.6G>A, NM_138430.3:c.6G>A, NM_001394807.1:c.6G>A

Select item 146207078012.

rs1462070780 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113433849 (GRCh38)
13:114088164 (GRCh37)
Canonical SPDI:: NC_000013.11:113433848:G:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.113433849G>A, NC_000013.10:g.114088164G>A, NM_138430.5:c.398C>T, NM_138430.4:c.398C>T, NM_138430.3:c.398C>T, NM_199162.3:c.152C>T, NM_199162.2:c.152C>T, NM_199162.1:c.152C>T, XM_047430086.1:c.152C>T, NM_001394807.1:c.398C>T, NP_612439.2:p.Ala133Val, NP_954631.1:p.Ala51Val, XP_047286042.1:p.Ala51Val, NP_001381736.1:p.Ala133Val

Select item 145111564613.

rs1451115646 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:113433753 (GRCh38)
13:114088068 (GRCh37)
Canonical SPDI:: NC_000013.11:113433752:T:C
Gene:: ADPRHL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.113433753T>C, NC_000013.10:g.114088068T>C, NM_138430.5:c.494A>G, NM_138430.4:c.494A>G, NM_138430.3:c.494A>G, NM_199162.3:c.248A>G, NM_199162.2:c.248A>G, NM_199162.1:c.248A>G, XM_047430086.1:c.248A>G, NM_001394807.1:c.494A>G, NP_612439.2:p.Asn165Ser, NP_954631.1:p.Asn83Ser, XP_047286042.1:p.Asn83Ser, NP_001381736.1:p.Asn165Ser

Select item 144494592114.

rs1444945921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:113429073 (GRCh38)
13:114083388 (GRCh37)
Canonical SPDI:: NC_000013.11:113429072:G:A
Gene:: ADPRHL1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.113429073G>A, NC_000013.10:g.114083388G>A, NM_138430.5:c.525C>T, NM_138430.4:c.525C>T, NM_138430.3:c.525C>T, NM_199162.3:c.279C>T, NM_199162.2:c.279C>T, NM_199162.1:c.279C>T, XM_047430086.1:c.279C>T, NM_001394807.1:c.525C>T

Select item 144229292815.

rs1442292928 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:113453383 (GRCh38)
13:114107698 (GRCh37)
Canonical SPDI:: NC_000013.11:113453382:A:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.113453383A>T, NC_000013.10:g.114107698A>T, NM_138430.5:c.55T>A, NM_138430.4:c.55T>A, NM_138430.3:c.55T>A, NM_001394807.1:c.55T>A, NP_612439.2:p.Tyr19Asn, NP_001381736.1:p.Tyr19Asn

Select item 144224031516.

rs1442240315 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:113422849 (GRCh38)
13:114077164 (GRCh37)
Canonical SPDI:: NC_000013.11:113422848:G:
Gene:: ADPRHL1 (Varview)
Functional Consequence:: frameshift_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000041/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000013.11:g.113422849del, NC_000013.10:g.114077164del, NM_138430.5:c.1038del, NM_138430.4:c.1038del, NM_138430.3:c.1038del, NM_199162.3:c.792del, NM_199162.2:c.792del, NM_199162.1:c.792del, XM_047430086.1:c.792del, NM_001394807.1:c.1038del, NP_612439.2:p.Tyr347fs, NP_954631.1:p.Tyr265fs, XP_047286042.1:p.Tyr265fs, NP_001381736.1:p.Tyr347fs

Select item 143869634617.

rs1438696346 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:113433803 (GRCh38)
13:114088118 (GRCh37)
Canonical SPDI:: NC_000013.11:113433802:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_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_000013.11:g.113433803C>T, NC_000013.10:g.114088118C>T, NM_138430.5:c.444G>A, NM_138430.4:c.444G>A, NM_138430.3:c.444G>A, NM_199162.3:c.198G>A, NM_199162.2:c.198G>A, NM_199162.1:c.198G>A, XM_047430086.1:c.198G>A, NM_001394807.1:c.444G>A

Select item 143855224118.

rs1438552241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:113444440 (GRCh38)
13:114098755 (GRCh37)
Canonical SPDI:: NC_000013.11:113444439:G:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000013.11:g.113444440G>T, NC_000013.10:g.114098755G>T, NM_138430.5:c.364C>A, NM_138430.4:c.364C>A, NM_138430.3:c.364C>A, NM_199162.3:c.118C>A, NM_199162.2:c.118C>A, NM_199162.1:c.118C>A, XM_047430086.1:c.118C>A, NM_001394807.1:c.364C>A, NP_612439.2:p.Pro122Thr, NP_954631.1:p.Pro40Thr, XP_047286042.1:p.Pro40Thr, NP_001381736.1:p.Pro122Thr

Select item 143809567019.

rs1438095670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:113453406 (GRCh38)
13:114107721 (GRCh37)
Canonical SPDI:: NC_000013.11:113453405:C:T
Gene:: ADPRHL1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.113453406C>T, NC_000013.10:g.114107721C>T, NM_138430.5:c.32G>A, NM_138430.4:c.32G>A, NM_138430.3:c.32G>A, NM_001394807.1:c.32G>A, NP_612439.2:p.Gly11Glu, NP_001381736.1:p.Gly11Glu

Select item 143745669420.

rs1437456694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:113424295 (GRCh38)
13:114078610 (GRCh37)
Canonical SPDI:: NC_000013.11:113424294:G:A,NC_000013.11:113424294:G:C
Gene:: ADPRHL1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.113424295G>A, NC_000013.11:g.113424295G>C, NC_000013.10:g.114078610G>A, NC_000013.10:g.114078610G>C, NM_138430.5:c.829C>T, NM_138430.5:c.829C>G, NM_138430.4:c.829C>T, NM_138430.4:c.829C>G, NM_138430.3:c.829C>T, NM_138430.3:c.829C>G, NM_199162.3:c.583C>T, NM_199162.3:c.583C>G, NM_199162.2:c.583C>T, NM_199162.2:c.583C>G, NM_199162.1:c.583C>T, NM_199162.1:c.583C>G, XM_047430086.1:c.583C>T, XM_047430086.1:c.583C>G, NM_001394807.1:c.829C>T, NM_001394807.1:c.829C>G, NP_612439.2:p.Pro277Ser, NP_612439.2:p.Pro277Ala, NP_954631.1:p.Pro195Ser, NP_954631.1:p.Pro195Ala, XP_047286042.1:p.Pro195Ser, XP_047286042.1:p.Pro195Ala, NP_001381736.1:p.Pro277Ser, NP_001381736.1:p.Pro277Ala

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