SNP Links for Protein (Select 332801025) - SNP

Links from Protein

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Select item 14785418331.

rs1478541833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:75564143 (GRCh38)
4:76489353 (GRCh37)
Canonical SPDI:: NC_000004.12:75564142:G:T
Gene:: ODAPH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75564143G>T, NC_000004.11:g.76489353G>T, NG_032974.1:g.13096G>T, NM_178497.5:c.97G>T, NM_178497.4:c.97G>T, NM_178497.3:c.97G>T, NR_046429.3:n.269G>T, NR_046429.2:n.269G>T, NR_046429.1:n.287G>T, NR_046430.3:n.250G>T, NR_046430.2:n.250G>T, NR_046430.1:n.268G>T, NM_001206981.2:c.141G>T, NM_001206981.1:c.141G>T, NM_001257072.2:c.97G>T, NM_001257072.1:c.97G>T, NP_848592.2:p.Asp33Tyr, NP_001193910.1:p.Glu47Asp, NP_001244001.1:p.Asp33Tyr

Select item 14733140942.

rs1473314094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:75564151 (GRCh38)
4:76489361 (GRCh37)
Canonical SPDI:: NC_000004.12:75564150:A:G
Gene:: ODAPH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (KOREAN)
G=0.0011/2 (Korea1K)
HGVS:: NC_000004.12:g.75564151A>G, NC_000004.11:g.76489361A>G, NG_032974.1:g.13104A>G, NM_178497.5:c.105A>G, NM_178497.4:c.105A>G, NM_178497.3:c.105A>G, NR_046429.3:n.277A>G, NR_046429.2:n.277A>G, NR_046429.1:n.295A>G, NR_046430.3:n.258A>G, NR_046430.2:n.258A>G, NR_046430.1:n.276A>G, NM_001206981.2:c.149A>G, NM_001206981.1:c.149A>G, NM_001257072.2:c.105A>G, NM_001257072.1:c.105A>G, NP_001193910.1:p.Lys50Arg

Select item 14681938043.

rs1468193804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:75556092 (GRCh38)
4:76481302 (GRCh37)
Canonical SPDI:: NC_000004.12:75556091:A:C
Gene:: ODAPH (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75556092A>C, NC_000004.11:g.76481302A>C, NG_032974.1:g.5045A>C, NM_178497.5:c.10A>C, NM_178497.4:c.10A>C, NM_178497.3:c.10A>C, NR_046429.3:n.27A>C, NR_046429.2:n.27A>C, NR_046429.1:n.45A>C, NR_046430.3:n.27A>C, NR_046430.2:n.27A>C, NR_046430.1:n.45A>C, NM_001206981.2:c.10A>C, NM_001206981.1:c.10A>C, NM_001257072.2:c.10A>C, NM_001257072.1:c.10A>C, NG_077568.1:g.394A>C

Select item 14638106934.

rs1463810693 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:75564311 (GRCh38)
4:76489521 (GRCh37)
Canonical SPDI:: NC_000004.12:75564310:CC:C
Gene:: ODAPH (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75564312del, NC_000004.11:g.76489522del, NG_032974.1:g.13265del, NM_178497.5:c.266del, NM_178497.4:c.266del, NM_178497.3:c.266del, NM_001206981.2:c.310del, NM_001206981.1:c.310del, NP_848592.2:p.Pro89fs, NP_001193910.1:p.Leu104fs

Select item 14623895935.

rs1462389593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:75556086 (GRCh38)
4:76481296 (GRCh37)
Canonical SPDI:: NC_000004.12:75556085:G:A,NC_000004.12:75556085:G:T
Gene:: ODAPH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.75556086G>A, NC_000004.12:g.75556086G>T, NC_000004.11:g.76481296G>A, NC_000004.11:g.76481296G>T, NG_032974.1:g.5039G>A, NG_032974.1:g.5039G>T, NM_178497.5:c.4G>A, NM_178497.5:c.4G>T, NM_178497.4:c.4G>A, NM_178497.4:c.4G>T, NM_178497.3:c.4G>A, NM_178497.3:c.4G>T, NR_046429.3:n.21G>A, NR_046429.3:n.21G>T, NR_046429.2:n.21G>A, NR_046429.2:n.21G>T, NR_046429.1:n.39G>A, NR_046429.1:n.39G>T, NR_046430.3:n.21G>A, NR_046430.3:n.21G>T, NR_046430.2:n.21G>A, NR_046430.2:n.21G>T, NR_046430.1:n.39G>A, NR_046430.1:n.39G>T, NM_001206981.2:c.4G>A, NM_001206981.2:c.4G>T, NM_001206981.1:c.4G>A, NM_001206981.1:c.4G>T, NM_001257072.2:c.4G>A, NM_001257072.2:c.4G>T, NM_001257072.1:c.4G>A, NM_001257072.1:c.4G>T, NG_077568.1:g.388G>A, NG_077568.1:g.388G>T, NP_848592.2:p.Ala2Thr, NP_848592.2:p.Ala2Ser, NP_001193910.1:p.Ala2Thr, NP_001193910.1:p.Ala2Ser, NP_001244001.1:p.Ala2Thr, NP_001244001.1:p.Ala2Ser

Select item 14556279586.

rs1455627958 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:75564384 (GRCh38)
4:76489594 (GRCh37)
Canonical SPDI:: NC_000004.12:75564383:A:C,NC_000004.12:75564383:A:G
Gene:: ODAPH (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75564384A>C, NC_000004.12:g.75564384A>G, NC_000004.11:g.76489594A>C, NC_000004.11:g.76489594A>G, NG_032974.1:g.13337A>C, NG_032974.1:g.13337A>G, NM_178497.5:c.338A>C, NM_178497.5:c.338A>G, NM_178497.4:c.338A>C, NM_178497.4:c.338A>G, NM_178497.3:c.338A>C, NM_178497.3:c.338A>G, NM_001206981.2:c.382A>C, NM_001206981.2:c.382A>G, NM_001206981.1:c.382A>C, NM_001206981.1:c.382A>G, NP_848592.2:p.Tyr113Ser, NP_848592.2:p.Tyr113Cys, NP_001193910.1:p.Ile128Leu, NP_001193910.1:p.Ile128Val

Select item 14549444467.

rs1454944446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75556141 (GRCh38)
4:76481351 (GRCh37)
Canonical SPDI:: NC_000004.12:75556140:T:C
Gene:: ODAPH (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75556141T>C, NC_000004.11:g.76481351T>C, NG_032974.1:g.5094T>C, NM_178497.5:c.59T>C, NM_178497.4:c.59T>C, NM_178497.3:c.59T>C, NR_046429.3:n.76T>C, NR_046429.2:n.76T>C, NR_046429.1:n.94T>C, NR_046430.3:n.76T>C, NR_046430.2:n.76T>C, NR_046430.1:n.94T>C, NM_001206981.2:c.59T>C, NM_001206981.1:c.59T>C, NM_001257072.2:c.59T>C, NM_001257072.1:c.59T>C, NG_077568.1:g.443T>C, NP_848592.2:p.Val20Ala, NP_001193910.1:p.Val20Ala, NP_001244001.1:p.Val20Ala

Select item 14369736398.

rs1436973639 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75564166 (GRCh38)
4:76489376 (GRCh37)
Canonical SPDI:: NC_000004.12:75564165:T:C
Gene:: ODAPH (Varview)
Functional Consequence:: synonymous_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75564166T>C, NC_000004.11:g.76489376T>C, NG_032974.1:g.13119T>C, NM_178497.5:c.120T>C, NM_178497.4:c.120T>C, NM_178497.3:c.120T>C, NR_046429.3:n.292T>C, NR_046429.2:n.292T>C, NR_046429.1:n.310T>C, NR_046430.3:n.273T>C, NR_046430.2:n.273T>C, NR_046430.1:n.291T>C, NM_001206981.2:c.164T>C, NM_001206981.1:c.164T>C, NM_001257072.2:c.120T>C, NM_001257072.1:c.120T>C, NP_001193910.1:p.Leu55Pro

Select item 14304535719.

rs1430453571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75564513 (GRCh38)
4:76489723 (GRCh37)
Canonical SPDI:: NC_000004.12:75564512:T:C
Gene:: ODAPH (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.75564513T>C, NC_000004.11:g.76489723T>C, NG_032974.1:g.13466T>C, NM_178497.5:c.*74T>C, NM_178497.4:c.*74T>C, NM_178497.3:c.*74T>C, NR_046429.3:n.504T>C, NR_046429.2:n.504T>C, NR_046429.1:n.522T>C, NR_046430.3:n.485T>C, NR_046430.2:n.485T>C, NR_046430.1:n.503T>C, NM_001206981.2:c.511T>C, NM_001206981.1:c.511T>C, NM_001257072.2:c.*74T>C, NM_001257072.1:c.*74T>C, NP_001193910.1:p.Cys171Arg

Select item 142370833410.

rs1423708334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:75564149 (GRCh38)
4:76489359 (GRCh37)
Canonical SPDI:: NC_000004.12:75564148:C:A,NC_000004.12:75564148:C:G
Gene:: ODAPH (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
G=0.000142/2 (TOMMO)
HGVS:: NC_000004.12:g.75564149C>A, NC_000004.12:g.75564149C>G, NC_000004.11:g.76489359C>A, NC_000004.11:g.76489359C>G, NG_032974.1:g.13102C>A, NG_032974.1:g.13102C>G, NM_178497.5:c.103C>A, NM_178497.5:c.103C>G, NM_178497.4:c.103C>A, NM_178497.4:c.103C>G, NM_178497.3:c.103C>A, NM_178497.3:c.103C>G, NR_046429.3:n.275C>A, NR_046429.3:n.275C>G, NR_046429.2:n.275C>A, NR_046429.2:n.275C>G, NR_046429.1:n.293C>A, NR_046429.1:n.293C>G, NR_046430.3:n.256C>A, NR_046430.3:n.256C>G, NR_046430.2:n.256C>A, NR_046430.2:n.256C>G, NR_046430.1:n.274C>A, NR_046430.1:n.274C>G, NM_001206981.2:c.147C>A, NM_001206981.2:c.147C>G, NM_001206981.1:c.147C>A, NM_001206981.1:c.147C>G, NM_001257072.2:c.103C>A, NM_001257072.2:c.103C>G, NM_001257072.1:c.103C>A, NM_001257072.1:c.103C>G, NP_848592.2:p.Gln35Lys, NP_848592.2:p.Gln35Glu, NP_001193910.1:p.His49Gln, NP_001193910.1:p.His49Gln, NP_001244001.1:p.Gln35Lys, NP_001244001.1:p.Gln35Glu

Select item 141434049811.

rs1414340498 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75564154 (GRCh38)
4:76489364 (GRCh37)
Canonical SPDI:: NC_000004.12:75564153:T:C
Gene:: ODAPH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75564154T>C, NC_000004.11:g.76489364T>C, NG_032974.1:g.13107T>C, NM_178497.5:c.108T>C, NM_178497.4:c.108T>C, NM_178497.3:c.108T>C, NR_046429.3:n.280T>C, NR_046429.2:n.280T>C, NR_046429.1:n.298T>C, NR_046430.3:n.261T>C, NR_046430.2:n.261T>C, NR_046430.1:n.279T>C, NM_001206981.2:c.152T>C, NM_001206981.1:c.152T>C, NM_001257072.2:c.108T>C, NM_001257072.1:c.108T>C, NP_001193910.1:p.Ile51Thr

Select item 141073048312.

rs1410730483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:75564461 (GRCh38)
4:76489671 (GRCh37)
Canonical SPDI:: NC_000004.12:75564460:T:A,NC_000004.12:75564460:T:C
Gene:: ODAPH (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.75564461T>A, NC_000004.12:g.75564461T>C, NC_000004.11:g.76489671T>A, NC_000004.11:g.76489671T>C, NG_032974.1:g.13414T>A, NG_032974.1:g.13414T>C, NM_178497.5:c.*22T>A, NM_178497.5:c.*22T>C, NM_178497.4:c.*22T>A, NM_178497.4:c.*22T>C, NM_178497.3:c.*22T>A, NM_178497.3:c.*22T>C, NR_046429.3:n.452T>A, NR_046429.3:n.452T>C, NR_046429.2:n.452T>A, NR_046429.2:n.452T>C, NR_046429.1:n.470T>A, NR_046429.1:n.470T>C, NR_046430.3:n.433T>A, NR_046430.3:n.433T>C, NR_046430.2:n.433T>A, NR_046430.2:n.433T>C, NR_046430.1:n.451T>A, NR_046430.1:n.451T>C, NM_001206981.2:c.459T>A, NM_001206981.2:c.459T>C, NM_001206981.1:c.459T>A, NM_001206981.1:c.459T>C, NM_001257072.2:c.*22T>A, NM_001257072.2:c.*22T>C, NM_001257072.1:c.*22T>A, NM_001257072.1:c.*22T>C, NP_001193910.1:p.His153Gln

Select item 140305718613.

rs1403057186 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:75564386 (GRCh38)
4:76489596 (GRCh37)
Canonical SPDI:: NC_000004.12:75564385:A:G
Gene:: ODAPH (Varview)
Functional Consequence:: splice_acceptor_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75564386A>G, NC_000004.11:g.76489596A>G, NG_032974.1:g.13339A>G, NM_178497.5:c.340A>G, NM_178497.4:c.340A>G, NM_178497.3:c.340A>G, NM_001206981.2:c.384A>G, NM_001206981.1:c.384A>G, NP_848592.2:p.Arg114Gly, NP_001193910.1:p.Ile128Met

Select item 139789417714.

rs1397894177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:75564388 (GRCh38)
4:76489598 (GRCh37)
Canonical SPDI:: NC_000004.12:75564387:G:A
Gene:: ODAPH (Varview)
Functional Consequence:: missense_variant,coding_sequence_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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75564388G>A, NC_000004.11:g.76489598G>A, NG_032974.1:g.13341G>A, NM_178497.5:c.342G>A, NM_178497.4:c.342G>A, NM_178497.3:c.342G>A, NR_046429.3:n.379G>A, NR_046429.2:n.379G>A, NR_046429.1:n.397G>A, NR_046430.3:n.360G>A, NR_046430.2:n.360G>A, NR_046430.1:n.378G>A, NM_001206981.2:c.386G>A, NM_001206981.1:c.386G>A, NM_001257072.2:c.207G>A, NM_001257072.1:c.207G>A, NP_001193910.1:p.Gly129Asp

Select item 139119754215.

rs1391197542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:75564465 (GRCh38)
4:76489675 (GRCh37)
Canonical SPDI:: NC_000004.12:75564464:G:A
Gene:: ODAPH (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00037/5 (ALFA)
A=0.00022/1 (Estonian)
HGVS:: NC_000004.12:g.75564465G>A, NC_000004.11:g.76489675G>A, NG_032974.1:g.13418G>A, NM_178497.5:c.*26G>A, NM_178497.4:c.*26G>A, NM_178497.3:c.*26G>A, NR_046429.3:n.456G>A, NR_046429.2:n.456G>A, NR_046429.1:n.474G>A, NR_046430.3:n.437G>A, NR_046430.2:n.437G>A, NR_046430.1:n.455G>A, NM_001206981.2:c.463G>A, NM_001206981.1:c.463G>A, NM_001257072.2:c.*26G>A, NM_001257072.1:c.*26G>A, NP_001193910.1:p.Glu155Lys

Select item 138835715716.

rs1388357157 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:75564297 (GRCh38)
4:76489507 (GRCh37)
Canonical SPDI:: NC_000004.12:75564296:GG:G
Gene:: ODAPH (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000016/4 (GnomAD_exomes)
-=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.75564298del, NC_000004.11:g.76489508del, NG_032974.1:g.13251del, NM_178497.5:c.252del, NM_178497.4:c.252del, NM_178497.3:c.252del, NM_001206981.2:c.296del, NM_001206981.1:c.296del, NP_848592.2:p.Arg84fs, NP_001193910.1:p.Gly99fs

Select item 137617428517.

rs1376174285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:75564439 (GRCh38)
4:76489649 (GRCh37)
Canonical SPDI:: NC_000004.12:75564438:A:G
Gene:: ODAPH (Varview)
Functional Consequence:: coding_sequence_variant,stop_lost,missense_variant,terminator_codon_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.75564439A>G, NC_000004.11:g.76489649A>G, NG_032974.1:g.13392A>G, NM_178497.5:c.393A>G, NM_178497.4:c.393A>G, NM_178497.3:c.393A>G, NR_046429.3:n.430A>G, NR_046429.2:n.430A>G, NR_046429.1:n.448A>G, NR_046430.3:n.411A>G, NR_046430.2:n.411A>G, NR_046430.1:n.429A>G, NM_001206981.2:c.437A>G, NM_001206981.1:c.437A>G, NM_001257072.2:c.258A>G, NM_001257072.1:c.258A>G, NP_848592.2:p.Ter131Trp, NP_001193910.1:p.Glu146Gly, NP_001244001.1:p.Ter86Trp

Select item 136958737018.

rs1369587370 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:75564227 (GRCh38)
4:76489437 (GRCh37)
Canonical SPDI:: NC_000004.12:75564226:G:A
Gene:: ODAPH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.75564227G>A, NC_000004.11:g.76489437G>A, NG_032974.1:g.13180G>A, NM_178497.5:c.181G>A, NM_178497.4:c.181G>A, NM_178497.3:c.181G>A, NR_046429.3:n.353G>A, NR_046429.2:n.353G>A, NR_046429.1:n.371G>A, NR_046430.3:n.334G>A, NR_046430.2:n.334G>A, NR_046430.1:n.352G>A, NM_001206981.2:c.225G>A, NM_001206981.1:c.225G>A, NM_001257072.2:c.181G>A, NM_001257072.1:c.181G>A, NP_848592.2:p.Ala61Thr, NP_001244001.1:p.Ala61Thr

Select item 136839843319.

rs1368398433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:75564383 (GRCh38)
4:76489593 (GRCh37)
Canonical SPDI:: NC_000004.12:75564382:T:C
Gene:: ODAPH (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000109/4 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.75564383T>C, NC_000004.11:g.76489593T>C, NG_032974.1:g.13336T>C, NM_178497.5:c.337T>C, NM_178497.4:c.337T>C, NM_178497.3:c.337T>C, NM_001206981.2:c.381T>C, NM_001206981.1:c.381T>C, NP_848592.2:p.Tyr113His

Select item 136035732720.

rs1360357327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:75564474 (GRCh38)
4:76489684 (GRCh37)
Canonical SPDI:: NC_000004.12:75564473:A:T
Gene:: ODAPH (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.75564474A>T, NC_000004.11:g.76489684A>T, NG_032974.1:g.13427A>T, NM_178497.5:c.*35A>T, NM_178497.4:c.*35A>T, NM_178497.3:c.*35A>T, NR_046429.3:n.465A>T, NR_046429.2:n.465A>T, NR_046429.1:n.483A>T, NR_046430.3:n.446A>T, NR_046430.2:n.446A>T, NR_046430.1:n.464A>T, NM_001206981.2:c.472A>T, NM_001206981.1:c.472A>T, NM_001257072.2:c.*35A>T, NM_001257072.1:c.*35A>T, NP_001193910.1:p.Lys158Ter

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