SNP Links for Protein (Select 527121933) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:36497643 (GRCh38)
17:34853487 (GRCh37)
Canonical SPDI:: NC_000017.11:36497642:G:A
Gene:: ZNHIT3 (Varview), MYO19 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_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_000017.11:g.36497643G>A, NW_003315949.1:g.382393G>A, NT_187614.1:g.732547G>A, NC_000017.10:g.34853487G>A, NM_001281432.2:c.324G>A, NM_001281432.1:c.324G>A, NR_104011.2:n.311G>A, NR_104011.1:n.365G>A, NM_001033577.1:c.*101G>A

Select item 142753765012.

rs1427537650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:36492839 (GRCh38)
17:34848683 (GRCh37)
Canonical SPDI:: NC_000017.11:36492838:G:T
Gene:: ZNHIT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000177/3 (TOMMO)
HGVS:: NC_000017.11:g.36492839G>T, NW_003315949.1:g.377589G>T, NT_187614.1:g.727743G>T, NC_000017.10:g.34848683G>T, NM_004773.4:c.145G>T, NM_004773.3:c.145G>T, NM_001281432.2:c.145G>T, NM_001281432.1:c.145G>T, NR_104011.2:n.132G>T, NR_104011.1:n.186G>T, NR_104009.2:n.159G>T, NR_104009.1:n.213G>T, NR_104010.2:n.132G>T, NR_104010.1:n.186G>T, NM_001281433.2:c.145G>T, NM_001281433.1:c.145G>T, NM_001033577.1:c.145G>T, NP_004764.1:p.Val49Phe, NP_001268361.1:p.Val49Phe, NP_001268362.1:p.Val49Phe

Select item 142692645113.

rs1426926451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:36486951 (GRCh38)
17:34842795 (GRCh37)
Canonical SPDI:: NC_000017.11:36486950:T:G
Gene:: ZNHIT3 (Varview), LOC105371749 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.36486951T>G, NW_003315949.1:g.371701T>G, NT_187614.1:g.721855T>G, NC_000017.10:g.34842795T>G, NM_004773.4:c.103T>G, NM_004773.3:c.103T>G, NM_001281432.2:c.103T>G, NM_001281432.1:c.103T>G, NR_104009.2:n.122T>G, NR_104009.1:n.176T>G, NM_001281433.2:c.103T>G, NM_001281433.1:c.103T>G, NM_001281434.2:c.103T>G, NM_001281434.1:c.103T>G, NM_001033577.1:c.103T>G, NP_004764.1:p.Phe35Val, NP_001268361.1:p.Phe35Val, NP_001268362.1:p.Phe35Val, NP_001268363.1:p.Phe35Val

Select item 142605970314.

rs1426059703 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:36492813 (GRCh38)
17:34848657 (GRCh37)
Canonical SPDI:: NC_000017.11:36492812:A:C
Gene:: ZNHIT3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36492813A>C, NW_003315949.1:g.377563A>C, NT_187614.1:g.727717A>C, NC_000017.10:g.34848657A>C, NM_004773.4:c.119A>C, NM_004773.3:c.119A>C, NM_001281432.2:c.119A>C, NM_001281432.1:c.119A>C, NR_104011.2:n.106A>C, NR_104011.1:n.160A>C, NR_104010.2:n.106A>C, NR_104010.1:n.160A>C, NM_001281433.2:c.119A>C, NM_001281433.1:c.119A>C, NM_001033577.1:c.119A>C, NP_004764.1:p.Glu40Ala, NP_001268361.1:p.Glu40Ala, NP_001268362.1:p.Glu40Ala

Select item 141718779315.

rs1417187793 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:36492866 (GRCh38)
17:34848710 (GRCh37)
Canonical SPDI:: NC_000017.11:36492865:CC:C
Gene:: ZNHIT3 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.36492867del, NW_003315949.1:g.377617del, NT_187614.1:g.727771del, NC_000017.10:g.34848711del, NM_004773.4:c.173del, NM_004773.3:c.173del, NM_001281432.2:c.173del, NM_001281432.1:c.173del, NR_104011.2:n.160del, NR_104011.1:n.214del, NR_104009.2:n.187del, NR_104009.1:n.241del, NR_104010.2:n.160del, NR_104010.1:n.214del, NM_001281433.2:c.173del, NM_001281433.1:c.173del, NM_001033577.1:c.173del, NP_004764.1:p.Pro58fs, NP_001268361.1:p.Pro58fs, NP_001268362.1:p.Pro58fs

Select item 141597752216.

rs1415977522 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:36493998 (GRCh38)
17:34849842 (GRCh37)
Canonical SPDI:: NC_000017.11:36493997:A:G
Gene:: ZNHIT3 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.36493998A>G, NW_003315949.1:g.378748A>G, NT_187614.1:g.728902A>G, NC_000017.10:g.34849842A>G, NM_004773.4:c.278A>G, NM_004773.3:c.278A>G, NM_001281432.2:c.278A>G, NM_001281432.1:c.278A>G, NR_104011.2:n.265A>G, NR_104011.1:n.319A>G, NR_104009.2:n.292A>G, NR_104009.1:n.346A>G, NR_104010.2:n.265A>G, NR_104010.1:n.319A>G, NM_001281433.2:c.*1A>G, NM_001281433.1:c.*1A>G, NM_001033577.1:c.*55A>G, NP_004764.1:p.Lys93Arg, NP_001268361.1:p.Lys93Arg

Select item 140606735217.

rs1406067352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:36486780 (GRCh38)
17:34842624 (GRCh37)
Canonical SPDI:: NC_000017.11:36486779:G:T
Gene:: ZNHIT3 (Varview), LOC105371749 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36486780G>T, NW_003315949.1:g.371530G>T, NT_187614.1:g.721684G>T, NC_000017.10:g.34842624G>T, NM_004773.4:c.81G>T, NM_004773.3:c.81G>T, NM_001281432.2:c.81G>T, NM_001281432.1:c.81G>T, NR_104011.2:n.100G>T, NR_104011.1:n.154G>T, NR_104009.2:n.100G>T, NR_104009.1:n.154G>T, NR_104010.2:n.100G>T, NR_104010.1:n.154G>T, NM_001281433.2:c.81G>T, NM_001281433.1:c.81G>T, NM_001281434.2:c.81G>T, NM_001281434.1:c.81G>T, NM_001033577.1:c.81G>T

Select item 140393400218.

rs1403934002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:36486742 (GRCh38)
17:34842586 (GRCh37)
Canonical SPDI:: NC_000017.11:36486741:T:C
Gene:: ZNHIT3 (Varview), LOC105371749 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.36486742T>C, NW_003315949.1:g.371492T>C, NT_187614.1:g.721646T>C, NC_000017.10:g.34842586T>C, NM_004773.4:c.43T>C, NM_004773.3:c.43T>C, NM_001281432.2:c.43T>C, NM_001281432.1:c.43T>C, NR_104011.2:n.62T>C, NR_104011.1:n.116T>C, NR_104009.2:n.62T>C, NR_104009.1:n.116T>C, NR_104010.2:n.62T>C, NR_104010.1:n.116T>C, NM_001281433.2:c.43T>C, NM_001281433.1:c.43T>C, NM_001281434.2:c.43T>C, NM_001281434.1:c.43T>C, NM_001033577.1:c.43T>C

Select item 140198566619.

rs1401985666 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:36492828 (GRCh38)
17:34848672 (GRCh37)
Canonical SPDI:: NC_000017.11:36492827:AAA:AA
Gene:: ZNHIT3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36492830del, NW_003315949.1:g.377580del, NT_187614.1:g.727734del, NC_000017.10:g.34848674del, NM_004773.4:c.136del, NM_004773.3:c.136del, NM_001281432.2:c.136del, NM_001281432.1:c.136del, NR_104011.2:n.123del, NR_104011.1:n.177del, NR_104009.2:n.150del, NR_104009.1:n.204del, NR_104010.2:n.123del, NR_104010.1:n.177del, NM_001281433.2:c.136del, NM_001281433.1:c.136del, NM_001033577.1:c.136del, NP_004764.1:p.Thr46fs, NP_001268361.1:p.Thr46fs, NP_001268362.1:p.Thr46fs

Select item 139301132020.

rs1393011320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:36486777 (GRCh38)
17:34842621 (GRCh37)
Canonical SPDI:: NC_000017.11:36486776:C:T
Gene:: ZNHIT3 (Varview), LOC105371749 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.36486777C>T, NW_003315949.1:g.371527C>T, NT_187614.1:g.721681C>T, NC_000017.10:g.34842621C>T, NM_004773.4:c.78C>T, NM_004773.3:c.78C>T, NM_001281432.2:c.78C>T, NM_001281432.1:c.78C>T, NR_104011.2:n.97C>T, NR_104011.1:n.151C>T, NR_104009.2:n.97C>T, NR_104009.1:n.151C>T, NR_104010.2:n.97C>T, NR_104010.1:n.151C>T, NM_001281433.2:c.78C>T, NM_001281433.1:c.78C>T, NM_001281434.2:c.78C>T, NM_001281434.1:c.78C>T, NM_001033577.1:c.78C>T

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