SNP Links for Protein (Select 1034560895) - SNP

Links from Protein

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Select item 14828977991.

rs1482897799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:153540204 (GRCh38)
1:153512680 (GRCh37)
Canonical SPDI:: NC_000001.11:153540203:C:G,NC_000001.11:153540203:C:T
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540204C>G, NC_000001.11:g.153540204C>T, NC_000001.10:g.153512680C>G, NC_000001.10:g.153512680C>T, XM_017002029.2:c.111G>C, XM_017002029.2:c.111G>A, XM_017002029.1:c.111G>C, XM_017002029.1:c.111G>A, NM_002962.2:c.-13G>C, NM_002962.2:c.-13G>A, NM_002962.1:c.-13G>C, NM_002962.1:c.-13G>A, XM_017002032.2:c.-13G>C, XM_017002032.2:c.-13G>A, XM_017002032.1:c.-13G>C, XM_017002032.1:c.-13G>A, XM_017002031.2:c.-13G>C, XM_017002031.2:c.-13G>A, XM_017002031.1:c.-13G>C, XM_017002031.1:c.-13G>A, NM_001394233.1:c.-13G>C, NM_001394233.1:c.-13G>A, NM_001394234.1:c.-13G>C, NM_001394234.1:c.-13G>A, NM_001394232.1:c.-13G>C, NM_001394232.1:c.-13G>A, XP_016857518.1:p.Glu37Asp

Select item 14428566382.

rs1442856638 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:153541392 (GRCh38)
1:153513868 (GRCh37)
Canonical SPDI:: NC_000001.11:153541391:G:C
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_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_000001.11:g.153541392G>C, NC_000001.10:g.153513868G>C, XM_017002029.2:c.102C>G, XM_017002029.1:c.102C>G, NM_002962.2:c.-22C>G, NM_002962.1:c.-22C>G, NM_001394234.1:c.-22C>G

Select item 14412113753.

rs1441211375 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153537401 (GRCh38)
1:153509877 (GRCh37)
Canonical SPDI:: NC_000001.11:153537400:G:A
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153537401G>A, NC_000001.10:g.153509877G>A, XM_017002029.2:c.297C>T, XM_017002029.1:c.297C>T, NM_002962.2:c.174C>T, NM_002962.1:c.174C>T, XM_017002032.2:c.174C>T, XM_017002032.1:c.174C>T, XM_017002031.2:c.174C>T, XM_017002031.1:c.174C>T, XR_007066630.1:n.2978G>A, NM_001394233.1:c.174C>T, NM_001394234.1:c.174C>T, NM_001394232.1:c.174C>T

Select item 14327294134.

rs1432729413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153541391 (GRCh38)
1:153513867 (GRCh37)
Canonical SPDI:: NC_000001.11:153541390:G:A
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_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_000001.11:g.153541391G>A, NC_000001.10:g.153513867G>A, XM_017002029.2:c.103C>T, XM_017002029.1:c.103C>T, NM_002962.2:c.-21C>T, NM_002962.1:c.-21C>T, NM_001394234.1:c.-21C>T, XP_016857518.1:p.His35Tyr

Select item 14314417755.

rs1431441775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:153541452 (GRCh38)
1:153513928 (GRCh37)
Canonical SPDI:: NC_000001.11:153541451:T:C
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_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_000001.11:g.153541452T>C, NC_000001.10:g.153513928T>C, XM_017002029.2:c.42A>G, XM_017002029.1:c.42A>G, NM_002962.2:c.-82A>G, NM_002962.1:c.-82A>G, NM_001394234.1:c.-82A>G, XP_016857518.1:p.Ile14Met

Select item 14282201196.

rs1428220119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:153540065 (GRCh38)
1:153512541 (GRCh37)
Canonical SPDI:: NC_000001.11:153540064:A:C
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.153540065A>C, NC_000001.10:g.153512541A>C, XM_017002029.2:c.250T>G, XM_017002029.1:c.250T>G, NM_002962.2:c.127T>G, NM_002962.1:c.127T>G, XM_017002032.2:c.127T>G, XM_017002032.1:c.127T>G, XM_017002031.2:c.127T>G, XM_017002031.1:c.127T>G, NM_001394233.1:c.127T>G, NM_001394234.1:c.127T>G, NM_001394232.1:c.127T>G, XP_016857518.1:p.Cys84Gly, NP_002953.2:p.Cys43Gly, XP_016857521.1:p.Cys43Gly, XP_016857520.1:p.Cys43Gly, NP_001381162.1:p.Cys43Gly, NP_001381163.1:p.Cys43Gly, NP_001381161.1:p.Cys43Gly

Select item 14072518927.

rs1407251892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:153540095 (GRCh38)
1:153512571 (GRCh37)
Canonical SPDI:: NC_000001.11:153540094:C:A
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540095C>A, NC_000001.10:g.153512571C>A, XM_017002029.2:c.220G>T, XM_017002029.1:c.220G>T, NM_002962.2:c.97G>T, NM_002962.1:c.97G>T, XM_017002032.2:c.97G>T, XM_017002032.1:c.97G>T, XM_017002031.2:c.97G>T, XM_017002031.1:c.97G>T, NM_001394233.1:c.97G>T, NM_001394234.1:c.97G>T, NM_001394232.1:c.97G>T, XP_016857518.1:p.Glu74Ter, NP_002953.2:p.Glu33Ter, XP_016857521.1:p.Glu33Ter, XP_016857520.1:p.Glu33Ter, NP_001381162.1:p.Glu33Ter, NP_001381163.1:p.Glu33Ter, NP_001381161.1:p.Glu33Ter

Select item 13909608648.

rs1390960864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:153541387 (GRCh38)
1:153513863 (GRCh37)
Canonical SPDI:: NC_000001.11:153541386:C:A
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153541387C>A, NC_000001.10:g.153513863C>A, XM_017002029.2:c.107G>T, XM_017002029.1:c.107G>T, NM_002962.2:c.-17G>T, NM_002962.1:c.-17G>T, NM_001394234.1:c.-17G>T, XP_016857518.1:p.Ser36Ile

Select item 13646091969.

rs1364609196 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153540109 (GRCh38)
1:153512585 (GRCh37)
Canonical SPDI:: NC_000001.11:153540108:G:A
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540109G>A, NC_000001.10:g.153512585G>A, XM_017002029.2:c.206C>T, XM_017002029.1:c.206C>T, NM_002962.2:c.83C>T, NM_002962.1:c.83C>T, XM_017002032.2:c.83C>T, XM_017002032.1:c.83C>T, XM_017002031.2:c.83C>T, XM_017002031.1:c.83C>T, NM_001394233.1:c.83C>T, NM_001394234.1:c.83C>T, NM_001394232.1:c.83C>T, XP_016857518.1:p.Thr69Ile, NP_002953.2:p.Thr28Ile, XP_016857521.1:p.Thr28Ile, XP_016857520.1:p.Thr28Ile, NP_001381162.1:p.Thr28Ile, NP_001381163.1:p.Thr28Ile, NP_001381161.1:p.Thr28Ile

Select item 135806859010.

rs1358068590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153540127 (GRCh38)
1:153512603 (GRCh37)
Canonical SPDI:: NC_000001.11:153540126:C:G
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540127C>G, NC_000001.10:g.153512603C>G, XM_017002029.2:c.188G>C, XM_017002029.1:c.188G>C, NM_002962.2:c.65G>C, NM_002962.1:c.65G>C, XM_017002032.2:c.65G>C, XM_017002032.1:c.65G>C, XM_017002031.2:c.65G>C, XM_017002031.1:c.65G>C, NM_001394233.1:c.65G>C, NM_001394234.1:c.65G>C, NM_001394232.1:c.65G>C, XP_016857518.1:p.Arg63Thr, NP_002953.2:p.Arg22Thr, XP_016857521.1:p.Arg22Thr, XP_016857520.1:p.Arg22Thr, NP_001381162.1:p.Arg22Thr, NP_001381163.1:p.Arg22Thr, NP_001381161.1:p.Arg22Thr

Select item 135659798511.

rs1356597985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:153541458 (GRCh38)
1:153513934 (GRCh37)
Canonical SPDI:: NC_000001.11:153541457:C:G,NC_000001.11:153541457:C:T
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153541458C>G, NC_000001.11:g.153541458C>T, NC_000001.10:g.153513934C>G, NC_000001.10:g.153513934C>T, XM_017002029.2:c.36G>C, XM_017002029.2:c.36G>A, XM_017002029.1:c.36G>C, XM_017002029.1:c.36G>A, NM_002962.2:c.-88G>C, NM_002962.2:c.-88G>A, NM_002962.1:c.-88G>C, NM_002962.1:c.-88G>A, NM_001394234.1:c.-88G>C, NM_001394234.1:c.-88G>A, XP_016857518.1:p.Arg12Ser

Select item 134686714012.

rs1346867140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153541441 (GRCh38)
1:153513917 (GRCh37)
Canonical SPDI:: NC_000001.11:153541440:C:T
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153541441C>T, NC_000001.10:g.153513917C>T, XM_017002029.2:c.53G>A, XM_017002029.1:c.53G>A, NM_002962.2:c.-71G>A, NM_002962.1:c.-71G>A, NM_001394234.1:c.-71G>A, XP_016857518.1:p.Gly18Asp

Select item 134603783113.

rs1346037831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:153537387 (GRCh38)
1:153509863 (GRCh37)
Canonical SPDI:: NC_000001.11:153537386:C:A
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.153537387C>A, NC_000001.10:g.153509863C>A, XM_017002029.2:c.311G>T, XM_017002029.1:c.311G>T, NM_002962.2:c.188G>T, NM_002962.1:c.188G>T, XM_017002032.2:c.188G>T, XM_017002032.1:c.188G>T, XM_017002031.2:c.188G>T, XM_017002031.1:c.188G>T, XR_007066630.1:n.2964C>A, NM_001394233.1:c.188G>T, NM_001394234.1:c.188G>T, NM_001394232.1:c.188G>T, XP_016857518.1:p.Ser104Ile, NP_002953.2:p.Ser63Ile, XP_016857521.1:p.Ser63Ile, XP_016857520.1:p.Ser63Ile, NP_001381162.1:p.Ser63Ile, NP_001381163.1:p.Ser63Ile, NP_001381161.1:p.Ser63Ile

Select item 133863025314.

rs1338630253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:153537374 (GRCh38)
1:153509850 (GRCh37)
Canonical SPDI:: NC_000001.11:153537373:G:A,NC_000001.11:153537373:G:T
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.153537374G>A, NC_000001.11:g.153537374G>T, NC_000001.10:g.153509850G>A, NC_000001.10:g.153509850G>T, XM_017002029.2:c.324C>T, XM_017002029.2:c.324C>A, XM_017002029.1:c.324C>T, XM_017002029.1:c.324C>A, NM_002962.2:c.201C>T, NM_002962.2:c.201C>A, NM_002962.1:c.201C>T, NM_002962.1:c.201C>A, XM_017002032.2:c.201C>T, XM_017002032.2:c.201C>A, XM_017002032.1:c.201C>T, XM_017002032.1:c.201C>A, XM_017002031.2:c.201C>T, XM_017002031.2:c.201C>A, XM_017002031.1:c.201C>T, XM_017002031.1:c.201C>A, XR_007066630.1:n.2951G>A, XR_007066630.1:n.2951G>T, NM_001394233.1:c.201C>T, NM_001394233.1:c.201C>A, NM_001394234.1:c.201C>T, NM_001394234.1:c.201C>A, NM_001394232.1:c.201C>T, NM_001394232.1:c.201C>A

Select item 132668977915.

rs1326689779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:153540105 (GRCh38)
1:153512581 (GRCh37)
Canonical SPDI:: NC_000001.11:153540104:C:T
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153540105C>T, NC_000001.10:g.153512581C>T, XM_017002029.2:c.210G>A, XM_017002029.1:c.210G>A, NM_002962.2:c.87G>A, NM_002962.1:c.87G>A, XM_017002032.2:c.87G>A, XM_017002032.1:c.87G>A, XM_017002031.2:c.87G>A, XM_017002031.1:c.87G>A, NM_001394233.1:c.87G>A, NM_001394234.1:c.87G>A, NM_001394232.1:c.87G>A

Select item 132656945116.

rs1326569451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:153540194 (GRCh38)
1:153512670 (GRCh37)
Canonical SPDI:: NC_000001.11:153540193:C:G
Gene:: S100A5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.153540194C>G, NC_000001.10:g.153512670C>G, XM_017002029.2:c.121G>C, XM_017002029.1:c.121G>C, NM_002962.2:c.-3G>C, NM_002962.1:c.-3G>C, XM_017002032.2:c.-3G>C, XM_017002032.1:c.-3G>C, XM_017002031.2:c.-3G>C, XM_017002031.1:c.-3G>C, NM_001394233.1:c.-3G>C, NM_001394234.1:c.-3G>C, NM_001394232.1:c.-3G>C, XP_016857518.1:p.Val41Leu

Select item 132257131417.

rs1322571314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:153540157 (GRCh38)
1:153512633 (GRCh37)
Canonical SPDI:: NC_000001.11:153540156:A:G
Gene:: S100A5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000045/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.153540157A>G, NC_000001.10:g.153512633A>G, XM_017002029.2:c.158T>C, XM_017002029.1:c.158T>C, NM_002962.2:c.35T>C, NM_002962.1:c.35T>C, XM_017002032.2:c.35T>C, XM_017002032.1:c.35T>C, XM_017002031.2:c.35T>C, XM_017002031.1:c.35T>C, NM_001394233.1:c.35T>C, NM_001394234.1:c.35T>C, NM_001394232.1:c.35T>C, XP_016857518.1:p.Met53Thr, NP_002953.2:p.Met12Thr, XP_016857521.1:p.Met12Thr, XP_016857520.1:p.Met12Thr, NP_001381162.1:p.Met12Thr, NP_001381163.1:p.Met12Thr, NP_001381161.1:p.Met12Thr

Select item 131798040718.

rs1317980407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:153537305 (GRCh38)
1:153509781 (GRCh37)
Canonical SPDI:: NC_000001.11:153537304:G:A
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153537305G>A, NC_000001.10:g.153509781G>A, XM_017002029.2:c.393C>T, XM_017002029.1:c.393C>T, NM_002962.2:c.270C>T, NM_002962.1:c.270C>T, XM_017002032.2:c.270C>T, XM_017002032.1:c.270C>T, XM_017002031.2:c.270C>T, XM_017002031.1:c.270C>T, XR_007066630.1:n.2882G>A, NM_001394233.1:c.270C>T, NM_001394234.1:c.270C>T, NM_001394232.1:c.270C>T

Select item 130023048719.

rs1300230487 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:153537305 (GRCh38)
1:153509781 (GRCh37)
Canonical SPDI:: NC_000001.11:153537303:TGT:T
Gene:: S100A5 (Varview), S100A6 (Varview), LOC124904423 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.153537305_153537306del, NC_000001.10:g.153509781_153509782del, XM_017002029.2:c.393_394del, XM_017002029.1:c.393_394del, NM_002962.2:c.270_271del, NM_002962.1:c.270_271del, XM_017002032.2:c.270_271del, XM_017002032.1:c.270_271del, XM_017002031.2:c.270_271del, XM_017002031.1:c.270_271del, XR_007066630.1:n.2882_2883del, NM_001394233.1:c.270_271del, NM_001394234.1:c.270_271del, NM_001394232.1:c.270_271del, XP_016857518.1:p.Asp131fs, NP_002953.2:p.Asp90fs, XP_016857521.1:p.Asp90fs, XP_016857520.1:p.Asp90fs, NP_001381162.1:p.Asp90fs, NP_001381163.1:p.Asp90fs, NP_001381161.1:p.Asp90fs

Select item 128806658720.

rs1288066587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:153541468 (GRCh38)
1:153513944 (GRCh37)
Canonical SPDI:: NC_000001.11:153541467:G:A,NC_000001.11:153541467:G:C
Gene:: S100A5 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.153541468G>A, NC_000001.11:g.153541468G>C, NC_000001.10:g.153513944G>A, NC_000001.10:g.153513944G>C, XM_017002029.2:c.26C>T, XM_017002029.2:c.26C>G, XM_017002029.1:c.26C>T, XM_017002029.1:c.26C>G, NM_002962.2:c.-98C>T, NM_002962.2:c.-98C>G, NM_002962.1:c.-98C>T, NM_002962.1:c.-98C>G, NM_001394234.1:c.-98C>T, NM_001394234.1:c.-98C>G, XP_016857518.1:p.Thr9Ile, XP_016857518.1:p.Thr9Arg

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