SNP Links for Protein (Select 4885187) - SNP

Links from Protein

Items: 1 to 20 of 302

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Select item 14913663831.

rs1491366383 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:97024576 (GRCh38)
7:96653888 (GRCh37)
Canonical SPDI:: NC_000007.14:97024575:GT:
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97024576_97024577del, NC_000007.13:g.96653888_96653889del, NG_009220.1:g.5255_5256del, NM_005221.6:c.47_48del, NM_005221.5:c.47_48del, NP_005212.1:p.Asp16fs

Select item 14912296042.

rs1491229604 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGCTC [Show Flanks]
Chromosome:: 7:97024576 (GRCh38)
7:96653889 (GRCh37)
Canonical SPDI:: NC_000007.14:97024576:TCGCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGCTC:TCGCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGCTCGCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGCTC
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_indel,upstream_transcript_variant,initiator_codon_variant,stop_gained,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCGCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGCTCGCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGCTC=0.000224/1 (ALFA)
TCGCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGC=0.000007/1 (GnomAD)
TCGCCGGATCGGATGCTGGGGACCCTTCTGTCAAACACTCCTGTCATCGC=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.97024579_97024628dup, NC_000007.13:g.96653891_96653940dup, NG_009220.1:g.5206_5255dup, NM_005221.6:c.-3_47dup, NM_005221.5:c.-3_47dup

Select item 14902553483.

rs1490255348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:97022346 (GRCh38)
7:96651658 (GRCh37)
Canonical SPDI:: NC_000007.14:97022345:C:T
Gene:: DLX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97022346C>T, NC_000007.13:g.96651658C>T, NG_009220.1:g.7486G>A, NM_005221.6:c.379G>A, NM_005221.5:c.379G>A, XM_005250185.4:c.-6G>A, XM_005250185.3:c.-6G>A, XM_005250185.2:c.-6G>A, XM_005250185.1:c.-6G>A, XM_017011803.2:c.-6G>A, XM_017011803.1:c.-6G>A, NP_005212.1:p.Val127Met

Select item 14897314914.

rs1489731491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:97024416 (GRCh38)
7:96653728 (GRCh37)
Canonical SPDI:: NC_000007.14:97024415:G:A
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97024416G>A, NC_000007.13:g.96653728G>A, NG_009220.1:g.5416C>T, NM_005221.6:c.208C>T, NM_005221.5:c.208C>T, NP_005212.1:p.Leu70Phe

Select item 14882216895.

rs1488221689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:97024520 (GRCh38)
7:96653832 (GRCh37)
Canonical SPDI:: NC_000007.14:97024519:G:C
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.97024520G>C, NC_000007.13:g.96653832G>C, NG_009220.1:g.5312C>G, NM_005221.6:c.104C>G, NM_005221.5:c.104C>G, NP_005212.1:p.Pro35Arg

Select item 14816576416.

rs1481657641 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:97022288 (GRCh38)
7:96651600 (GRCh37)
Canonical SPDI:: NC_000007.14:97022287:C:
Gene:: DLX5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.97022288del, NC_000007.13:g.96651600del, NG_009220.1:g.7544del, NM_005221.6:c.437del, NM_005221.5:c.437del, XM_005250185.4:c.53del, XM_005250185.3:c.53del, XM_005250185.2:c.53del, XM_005250185.1:c.53del, XM_017011803.2:c.53del, XM_017011803.1:c.53del, NP_005212.1:p.Ser146fs, XP_005250242.1:p.Ser18fs, XP_016867292.1:p.Ser18fs

Select item 14815653437.

rs1481565343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:97024578 (GRCh38)
7:96653890 (GRCh37)
Canonical SPDI:: NC_000007.14:97024577:C:A
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97024578C>A, NC_000007.13:g.96653890C>A, NG_009220.1:g.5254G>T, NM_005221.6:c.46G>T, NM_005221.5:c.46G>T, NP_005212.1:p.Asp16Tyr

Select item 14810066328.

rs1481006632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:97020955 (GRCh38)
7:96650267 (GRCh37)
Canonical SPDI:: NC_000007.14:97020954:C:A,NC_000007.14:97020954:C:T
Gene:: DLX5 (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_000007.14:g.97020955C>A, NC_000007.14:g.97020955C>T, NC_000007.13:g.96650267C>A, NC_000007.13:g.96650267C>T, NG_009220.1:g.8877G>T, NG_009220.1:g.8877G>A, NM_005221.6:c.651G>T, NM_005221.6:c.651G>A, NM_005221.5:c.651G>T, NM_005221.5:c.651G>A, XM_005250185.4:c.267G>T, XM_005250185.4:c.267G>A, XM_005250185.3:c.267G>T, XM_005250185.3:c.267G>A, XM_005250185.2:c.267G>T, XM_005250185.2:c.267G>A, XM_005250185.1:c.267G>T, XM_005250185.1:c.267G>A, XM_017011803.2:c.267G>T, XM_017011803.2:c.267G>A, XM_017011803.1:c.267G>T, XM_017011803.1:c.267G>A

Select item 14800656929.

rs1480065692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:97020875 (GRCh38)
7:96650187 (GRCh37)
Canonical SPDI:: NC_000007.14:97020874:G:C
Gene:: DLX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97020875G>C, NC_000007.13:g.96650187G>C, NG_009220.1:g.8957C>G, NM_005221.6:c.731C>G, NM_005221.5:c.731C>G, XM_005250185.4:c.347C>G, XM_005250185.3:c.347C>G, XM_005250185.2:c.347C>G, XM_005250185.1:c.347C>G, XM_017011803.2:c.347C>G, XM_017011803.1:c.347C>G, NP_005212.1:p.Ser244Cys, XP_005250242.1:p.Ser116Cys, XP_016867292.1:p.Ser116Cys

Select item 147440380010.

rs1474403800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:97022276 (GRCh38)
7:96651588 (GRCh37)
Canonical SPDI:: NC_000007.14:97022275:G:A
Gene:: DLX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97022276G>A, NC_000007.13:g.96651588G>A, NG_009220.1:g.7556C>T, NM_005221.6:c.449C>T, NM_005221.5:c.449C>T, XM_005250185.4:c.65C>T, XM_005250185.3:c.65C>T, XM_005250185.2:c.65C>T, XM_005250185.1:c.65C>T, XM_017011803.2:c.65C>T, XM_017011803.1:c.65C>T, NP_005212.1:p.Ala150Val, XP_005250242.1:p.Ala22Val, XP_016867292.1:p.Ala22Val

Select item 146486685411.

rs1464866854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:97024495 (GRCh38)
7:96653807 (GRCh37)
Canonical SPDI:: NC_000007.14:97024494:G:T
Gene:: DLX5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97024495G>T, NC_000007.13:g.96653807G>T, NG_009220.1:g.5337C>A, NM_005221.6:c.129C>A, NM_005221.5:c.129C>A

Select item 146157718412.

rs1461577184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:97020900 (GRCh38)
7:96650212 (GRCh37)
Canonical SPDI:: NC_000007.14:97020899:G:A
Gene:: DLX5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97020900G>A, NC_000007.13:g.96650212G>A, NG_009220.1:g.8932C>T, NM_005221.6:c.706C>T, NM_005221.5:c.706C>T, XM_005250185.4:c.322C>T, XM_005250185.3:c.322C>T, XM_005250185.2:c.322C>T, XM_005250185.1:c.322C>T, XM_017011803.2:c.322C>T, XM_017011803.1:c.322C>T, NP_005212.1:p.His236Tyr, XP_005250242.1:p.His108Tyr, XP_016867292.1:p.His108Tyr

Select item 146007080213.

rs1460070802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:97024580 (GRCh38)
7:96653892 (GRCh37)
Canonical SPDI:: NC_000007.14:97024579:C:T
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97024580C>T, NC_000007.13:g.96653892C>T, NG_009220.1:g.5252G>A, NM_005221.6:c.44G>A, NM_005221.5:c.44G>A, NP_005212.1:p.Gly15Asp

Select item 145770591614.

rs1457705916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:97024534 (GRCh38)
7:96653846 (GRCh37)
Canonical SPDI:: NC_000007.14:97024533:C:A
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97024534C>A, NC_000007.13:g.96653846C>A, NG_009220.1:g.5298G>T, NM_005221.6:c.90G>T, NM_005221.5:c.90G>T

Select item 144844725615.

rs1448447256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:97024332 (GRCh38)
7:96653644 (GRCh37)
Canonical SPDI:: NC_000007.14:97024331:C:G
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.97024332C>G, NC_000007.13:g.96653644C>G, NG_009220.1:g.5500G>C, NM_005221.6:c.292G>C, NM_005221.5:c.292G>C, NP_005212.1:p.Ala98Pro

Select item 144478221816.

rs1444782218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:97020766 (GRCh38)
7:96650078 (GRCh37)
Canonical SPDI:: NC_000007.14:97020765:C:T
Gene:: DLX5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.97020766C>T, NC_000007.13:g.96650078C>T, NG_009220.1:g.9066G>A, NM_005221.6:c.840G>A, NM_005221.5:c.840G>A, XM_005250185.4:c.456G>A, XM_005250185.3:c.456G>A, XM_005250185.2:c.456G>A, XM_005250185.1:c.456G>A, XM_017011803.2:c.456G>A, XM_017011803.1:c.456G>A

Select item 144299765117.

rs1442997651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:97024506 (GRCh38)
7:96653818 (GRCh37)
Canonical SPDI:: NC_000007.14:97024505:A:C
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.97024506A>C, NC_000007.13:g.96653818A>C, NG_009220.1:g.5326T>G, NM_005221.6:c.118T>G, NM_005221.5:c.118T>G, NP_005212.1:p.Ser40Ala

Select item 143853811718.

rs1438538117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:97022249 (GRCh38)
7:96651561 (GRCh37)
Canonical SPDI:: NC_000007.14:97022248:G:A
Gene:: DLX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.97022249G>A, NC_000007.13:g.96651561G>A, NG_009220.1:g.7583C>T, NM_005221.6:c.476C>T, NM_005221.5:c.476C>T, XM_005250185.4:c.92C>T, XM_005250185.3:c.92C>T, XM_005250185.2:c.92C>T, XM_005250185.1:c.92C>T, XM_017011803.2:c.92C>T, XM_017011803.1:c.92C>T, NP_005212.1:p.Thr159Ile, XP_005250242.1:p.Thr31Ile, XP_016867292.1:p.Thr31Ile

Select item 143852395619.

rs1438523956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:97024460 (GRCh38)
7:96653772 (GRCh37)
Canonical SPDI:: NC_000007.14:97024459:G:A,NC_000007.14:97024459:G:T
Gene:: DLX5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.97024460G>A, NC_000007.14:g.97024460G>T, NC_000007.13:g.96653772G>A, NC_000007.13:g.96653772G>T, NG_009220.1:g.5372C>T, NG_009220.1:g.5372C>A, NM_005221.6:c.164C>T, NM_005221.6:c.164C>A, NM_005221.5:c.164C>T, NM_005221.5:c.164C>A, NP_005212.1:p.Pro55Leu, NP_005212.1:p.Pro55Gln

Select item 143197623520.

rs1431976235 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:97020913 (GRCh38)
7:96650225 (GRCh37)
Canonical SPDI:: NC_000007.14:97020912:G:T
Gene:: DLX5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.97020913G>T, NC_000007.13:g.96650225G>T, NG_009220.1:g.8919C>A, NM_005221.6:c.693C>A, NM_005221.5:c.693C>A, XM_005250185.4:c.309C>A, XM_005250185.3:c.309C>A, XM_005250185.2:c.309C>A, XM_005250185.1:c.309C>A, XM_017011803.2:c.309C>A, XM_017011803.1:c.309C>A

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