SNP Links for Protein (Select 118498347) - SNP

Links from Protein

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Select item 14879148841.

rs1487914884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:111631710 (GRCh38)
9:114393990 (GRCh37)
Canonical SPDI:: NC_000009.12:111631709:C:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.111631710C>T, NC_000009.11:g.114393990C>T, NM_004125.4:c.303C>T, NM_004125.3:c.303C>T, NM_001015882.3:c.303C>T, NM_001015882.2:c.303C>T, NR_037148.2:n.377C>T, NR_037148.1:n.359C>T

Select item 14818640552.

rs1481864055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:111649594 (GRCh38)
9:114411874 (GRCh37)
Canonical SPDI:: NC_000009.12:111649593:A:C,NC_000009.12:111649593:A:G
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111649594A>C, NC_000009.12:g.111649594A>G, NC_000009.11:g.114411874A>C, NC_000009.11:g.114411874A>G, NM_001015882.3:c.631A>C, NM_001015882.3:c.631A>G, NM_001015882.2:c.631A>C, NM_001015882.2:c.631A>G, NR_037148.2:n.943A>C, NR_037148.2:n.943A>G, NR_037148.1:n.925A>C, NR_037148.1:n.925A>G, NP_001015882.2:p.Lys211Gln, NP_001015882.2:p.Lys211Glu

Select item 14818177213.

rs1481817721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:111631620 (GRCh38)
9:114393900 (GRCh37)
Canonical SPDI:: NC_000009.12:111631619:G:A,NC_000009.12:111631619:G:C
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.111631620G>A, NC_000009.12:g.111631620G>C, NC_000009.11:g.114393900G>A, NC_000009.11:g.114393900G>C, NM_004125.4:c.213G>A, NM_004125.4:c.213G>C, NM_004125.3:c.213G>A, NM_004125.3:c.213G>C, NM_001015882.3:c.213G>A, NM_001015882.3:c.213G>C, NM_001015882.2:c.213G>A, NM_001015882.2:c.213G>C, NR_037148.2:n.287G>A, NR_037148.2:n.287G>C, NR_037148.1:n.269G>A, NR_037148.1:n.269G>C, NP_004116.2:p.Gln71His, NP_001015882.2:p.Gln71His

Select item 14813640684.

rs1481364068 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:111631468 (GRCh38)
9:114393748 (GRCh37)
Canonical SPDI:: NC_000009.12:111631467:A:G
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.111631468A>G, NC_000009.11:g.114393748A>G, NM_004125.4:c.61A>G, NM_004125.3:c.61A>G, NM_001015882.3:c.61A>G, NM_001015882.2:c.61A>G, NR_037148.2:n.135A>G, NR_037148.1:n.117A>G, NP_004116.2:p.Met21Val, NP_001015882.2:p.Met21Val

Select item 14790915035.

rs1479091503 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:111647142 (GRCh38)
9:114409422 (GRCh37)
Canonical SPDI:: NC_000009.12:111647141:G:C
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.111647142G>C, NC_000009.11:g.114409422G>C, NM_001015882.3:c.372G>C, NM_001015882.2:c.372G>C, NR_037148.2:n.684G>C, NR_037148.1:n.666G>C

Select item 14758424976.

rs1475842497 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:111649858 (GRCh38)
9:114412138 (GRCh37)
Canonical SPDI:: NC_000009.12:111649857:A:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111649858A>T, NC_000009.11:g.114412138A>T, NM_001015882.3:c.895A>T, NM_001015882.2:c.895A>T, NR_037148.2:n.1207A>T, NR_037148.1:n.1189A>T, NP_001015882.2:p.Ser299Cys

Select item 14753914587.

rs1475391458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:111649833 (GRCh38)
9:114412113 (GRCh37)
Canonical SPDI:: NC_000009.12:111649832:G:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
HGVS:: NC_000009.12:g.111649833G>T, NC_000009.11:g.114412113G>T, NM_001015882.3:c.870G>T, NM_001015882.2:c.870G>T, NR_037148.2:n.1182G>T, NR_037148.1:n.1164G>T, NP_001015882.2:p.Met290Ile

Select item 14735171948.

rs1473517194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:111631488 (GRCh38)
9:114393768 (GRCh37)
Canonical SPDI:: NC_000009.12:111631487:G:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.111631488G>T, NC_000009.11:g.114393768G>T, NM_004125.4:c.81G>T, NM_004125.3:c.81G>T, NM_001015882.3:c.81G>T, NM_001015882.2:c.81G>T, NR_037148.2:n.155G>T, NR_037148.1:n.137G>T

Select item 14714123249.

rs1471412324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:111649506 (GRCh38)
9:114411786 (GRCh37)
Canonical SPDI:: NC_000009.12:111649505:G:A
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000009.12:g.111649506G>A, NC_000009.11:g.114411786G>A, NM_001015882.3:c.543G>A, NM_001015882.2:c.543G>A, NR_037148.2:n.855G>A, NR_037148.1:n.837G>A

Select item 147064827710.

rs1470648277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:111647112 (GRCh38)
9:114409392 (GRCh37)
Canonical SPDI:: NC_000009.12:111647111:A:G
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.111647112A>G, NC_000009.11:g.114409392A>G, NM_001015882.3:c.342A>G, NM_001015882.2:c.342A>G, NR_037148.2:n.654A>G, NR_037148.1:n.636A>G

Select item 146930266511.

rs1469302665 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTTA>- [Show Flanks]
Chromosome:: 9:111649712 (GRCh38)
9:114411992 (GRCh37)
Canonical SPDI:: NC_000009.12:111649708:TTATCTTA:TTA
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.111649712_111649716del, NC_000009.11:g.114411992_114411996del, NM_001015882.3:c.749_753del, NM_001015882.2:c.749_753del, NR_037148.2:n.1061_1065del, NR_037148.1:n.1043_1047del, NP_001015882.2:p.Ile250fs

Select item 146588689312.

rs1465886893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:111631552 (GRCh38)
9:114393832 (GRCh37)
Canonical SPDI:: NC_000009.12:111631551:G:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00007/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.111631552G>T, NC_000009.11:g.114393832G>T, NM_004125.4:c.145G>T, NM_004125.3:c.145G>T, NM_001015882.3:c.145G>T, NM_001015882.2:c.145G>T, NR_037148.2:n.219G>T, NR_037148.1:n.201G>T, NP_004116.2:p.Asp49Tyr, NP_001015882.2:p.Asp49Tyr

Select item 145533211213.

rs1455332112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:111631500 (GRCh38)
9:114393780 (GRCh37)
Canonical SPDI:: NC_000009.12:111631499:G:A
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_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_000009.12:g.111631500G>A, NC_000009.11:g.114393780G>A, NM_004125.4:c.93G>A, NM_004125.3:c.93G>A, NM_001015882.3:c.93G>A, NM_001015882.2:c.93G>A, NR_037148.2:n.167G>A, NR_037148.1:n.149G>A

Select item 145456704414.

rs1454567044 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 9:111653132 (GRCh38)
9:114415412 (GRCh37)
Canonical SPDI:: NC_000009.12:111653128:AAAGAAA:AAA
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111653132_111653135del, NC_000009.11:g.114415412_114415415del, NM_001015882.3:c.993_996del, NM_001015882.2:c.993_996del, NR_037148.2:n.1305_1308del, NR_037148.1:n.1287_1290del, NP_001015882.2:p.Lys332fs

Select item 145189281215.

rs1451892812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:111631738 (GRCh38)
9:114394018 (GRCh37)
Canonical SPDI:: NC_000009.12:111631737:C:G,NC_000009.12:111631737:C:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.111631738C>G, NC_000009.12:g.111631738C>T, NC_000009.11:g.114394018C>G, NC_000009.11:g.114394018C>T, NM_004125.4:c.331C>G, NM_004125.4:c.331C>T, NM_004125.3:c.331C>G, NM_004125.3:c.331C>T, NM_001015882.3:c.331C>G, NM_001015882.3:c.331C>T, NM_001015882.2:c.331C>G, NM_001015882.2:c.331C>T, NR_037148.2:n.405C>G, NR_037148.2:n.405C>T, NR_037148.1:n.387C>G, NR_037148.1:n.387C>T, NP_004116.2:p.Leu111Val, NP_004116.2:p.Leu111Phe, NP_001015882.2:p.Leu111Val, NP_001015882.2:p.Leu111Phe

Select item 145033383516.

rs1450333835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:111631576 (GRCh38)
9:114393856 (GRCh37)
Canonical SPDI:: NC_000009.12:111631575:A:G
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.111631576A>G, NC_000009.11:g.114393856A>G, NM_004125.4:c.169A>G, NM_004125.3:c.169A>G, NM_001015882.3:c.169A>G, NM_001015882.2:c.169A>G, NR_037148.2:n.243A>G, NR_037148.1:n.225A>G, NP_004116.2:p.Ser57Gly, NP_001015882.2:p.Ser57Gly

Select item 144941872417.

rs1449418724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:111631626 (GRCh38)
9:114393906 (GRCh37)
Canonical SPDI:: NC_000009.12:111631625:C:G,NC_000009.12:111631625:C:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111631626C>G, NC_000009.12:g.111631626C>T, NC_000009.11:g.114393906C>G, NC_000009.11:g.114393906C>T, NM_004125.4:c.219C>G, NM_004125.4:c.219C>T, NM_004125.3:c.219C>G, NM_004125.3:c.219C>T, NM_001015882.3:c.219C>G, NM_001015882.3:c.219C>T, NM_001015882.2:c.219C>G, NM_001015882.2:c.219C>T, NR_037148.2:n.293C>G, NR_037148.2:n.293C>T, NR_037148.1:n.275C>G, NR_037148.1:n.275C>T

Select item 144879675818.

rs1448796758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:111631510 (GRCh38)
9:114393790 (GRCh37)
Canonical SPDI:: NC_000009.12:111631509:C:G,NC_000009.12:111631509:C:T
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000049/13 (TOPMED)
HGVS:: NC_000009.12:g.111631510C>G, NC_000009.12:g.111631510C>T, NC_000009.11:g.114393790C>G, NC_000009.11:g.114393790C>T, NM_004125.4:c.103C>G, NM_004125.4:c.103C>T, NM_004125.3:c.103C>G, NM_004125.3:c.103C>T, NM_001015882.3:c.103C>G, NM_001015882.3:c.103C>T, NM_001015882.2:c.103C>G, NM_001015882.2:c.103C>T, NR_037148.2:n.177C>G, NR_037148.2:n.177C>T, NR_037148.1:n.159C>G, NR_037148.1:n.159C>T, NP_004116.2:p.Pro35Ala, NP_004116.2:p.Pro35Ser, NP_001015882.2:p.Pro35Ala, NP_001015882.2:p.Pro35Ser

Select item 144525246419.

rs1445252464 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:111647144 (GRCh38)
9:114409424 (GRCh37)
Canonical SPDI:: NC_000009.12:111647143:A:G
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.111647144A>G, NC_000009.11:g.114409424A>G, NM_001015882.3:c.374A>G, NM_001015882.2:c.374A>G, NR_037148.2:n.686A>G, NR_037148.1:n.668A>G, NP_001015882.2:p.Asp125Gly

Select item 144478223420.

rs1444782234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:111631628 (GRCh38)
9:114393908 (GRCh37)
Canonical SPDI:: NC_000009.12:111631627:G:A
Gene:: DNAJC25 (Varview), DNAJC25-GNG10 (Varview), LOC107987116 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.111631628G>A, NC_000009.11:g.114393908G>A, NM_004125.4:c.221G>A, NM_004125.3:c.221G>A, NM_001015882.3:c.221G>A, NM_001015882.2:c.221G>A, NR_037148.2:n.295G>A, NR_037148.1:n.277G>A, NP_004116.2:p.Arg74Gln, NP_001015882.2:p.Arg74Gln

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