SNP Links for Protein (Select 4507947) - SNP

Links from Protein

Items: 1 to 20 of 468

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Select item 14907570971.

rs1490757097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32781139 (GRCh38)
1:33246740 (GRCh37)
Canonical SPDI:: NC_000001.11:32781138:A:G
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32781139A>G, NC_000001.10:g.33246740A>G, NG_008408.1:g.41894T>C, NM_003680.4:c.1049T>C, NM_003680.3:c.1049T>C, XM_011542347.3:c.419T>C, XM_011542347.2:c.419T>C, XM_011542347.1:c.419T>C, NP_003671.1:p.Met350Thr, XP_011540649.1:p.Met140Thr

Select item 14907300422.

rs1490730042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:32791173 (GRCh38)
1:33256774 (GRCh37)
Canonical SPDI:: NC_000001.11:32791172:A:T
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32791173A>T, NC_000001.10:g.33256774A>T, NG_008408.1:g.31860T>A, NM_003680.4:c.673T>A, NM_003680.3:c.673T>A, XM_011542347.3:c.43T>A, XM_011542347.2:c.43T>A, XM_011542347.1:c.43T>A, NP_003671.1:p.Ser225Thr, XP_011540649.1:p.Ser15Thr

Select item 14891823973.

rs1489182397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32776042 (GRCh38)
1:33241643 (GRCh37)
Canonical SPDI:: NC_000001.11:32776041:T:C
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.32776042T>C, NC_000001.10:g.33241643T>C, NG_008408.1:g.46991A>G, NM_003680.4:c.1526A>G, NM_003680.3:c.1526A>G, XM_011542347.3:c.896A>G, XM_011542347.2:c.896A>G, XM_011542347.1:c.896A>G, NP_003671.1:p.Asn509Ser, XP_011540649.1:p.Asn299Ser

Select item 14887278124.

rs1488727812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32817200 (GRCh38)
1:33282801 (GRCh37)
Canonical SPDI:: NC_000001.11:32817199:G:A
Gene:: YARS1 (Varview), S100PBP (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.32817200G>A, NC_000001.10:g.33282801G>A, NG_008408.1:g.5833C>T, NM_003680.4:c.45C>T, NM_003680.3:c.45C>T, NG_031988.1:g.4759G>A, XM_011542347.3:c.-263C>T, XM_011542347.2:c.-263C>T, XM_011542347.1:c.-263C>T

Select item 14884747655.

rs1488474765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32779459 (GRCh38)
1:33245060 (GRCh37)
Canonical SPDI:: NC_000001.11:32779458:C:T
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.32779459C>T, NC_000001.10:g.33245060C>T, NG_008408.1:g.43574G>A, NM_003680.4:c.1399G>A, NM_003680.3:c.1399G>A, XM_011542347.3:c.769G>A, XM_011542347.2:c.769G>A, XM_011542347.1:c.769G>A, NP_003671.1:p.Val467Met, XP_011540649.1:p.Val257Met

Select item 14872197266.

rs1487219726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:32781048 (GRCh38)
1:33246649 (GRCh37)
Canonical SPDI:: NC_000001.11:32781047:C:G,NC_000001.11:32781047:C:T
Gene:: YARS1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32781048C>G, NC_000001.11:g.32781048C>T, NC_000001.10:g.33246649C>G, NC_000001.10:g.33246649C>T, NG_008408.1:g.41985G>C, NG_008408.1:g.41985G>A, NM_003680.4:c.1140G>C, NM_003680.4:c.1140G>A, NM_003680.3:c.1140G>C, NM_003680.3:c.1140G>A, XM_011542347.3:c.510G>C, XM_011542347.3:c.510G>A, XM_011542347.2:c.510G>C, XM_011542347.2:c.510G>A, XM_011542347.1:c.510G>C, XM_011542347.1:c.510G>A, NP_003671.1:p.Lys380Asn, XP_011540649.1:p.Lys170Asn

Select item 14853784117.

rs1485378411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32810719 (GRCh38)
1:33276320 (GRCh37)
Canonical SPDI:: NC_000001.11:32810718:T:C
Gene:: YARS1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32810719T>C, NC_000001.10:g.33276320T>C, NG_008408.1:g.12314A>G, NM_003680.4:c.252A>G, NM_003680.3:c.252A>G

Select item 14811992848.

rs1481199284 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32781061 (GRCh38)
1:33246662 (GRCh37)
Canonical SPDI:: NC_000001.11:32781060:A:G
Gene:: YARS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.32781061A>G, NC_000001.10:g.33246662A>G, NG_008408.1:g.41972T>C, NM_003680.4:c.1127T>C, NM_003680.3:c.1127T>C, XM_011542347.3:c.497T>C, XM_011542347.2:c.497T>C, XM_011542347.1:c.497T>C, NP_003671.1:p.Ile376Thr, XP_011540649.1:p.Ile166Thr

Select item 14806304359.

rs1480630435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:32791187 (GRCh38)
1:33256788 (GRCh37)
Canonical SPDI:: NC_000001.11:32791186:C:G
Gene:: YARS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32791187C>G, NC_000001.10:g.33256788C>G, NG_008408.1:g.31846G>C, NM_003680.4:c.659G>C, NM_003680.3:c.659G>C, XM_011542347.3:c.29G>C, XM_011542347.2:c.29G>C, XM_011542347.1:c.29G>C, NP_003671.1:p.Gly220Ala, XP_011540649.1:p.Gly10Ala

Select item 147585287610.

rs1475852876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32797804 (GRCh38)
1:33263405 (GRCh37)
Canonical SPDI:: NC_000001.11:32797803:C:T
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32797804C>T, NC_000001.10:g.33263405C>T, NG_008408.1:g.25229G>A, NM_003680.4:c.550G>A, NM_003680.3:c.550G>A, XM_011542347.3:c.-81G>A, XM_011542347.2:c.-81G>A, XM_011542347.1:c.-81G>A, NP_003671.1:p.Gly184Arg

Select item 147448474711.

rs1474484747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32810918 (GRCh38)
1:33276519 (GRCh37)
Canonical SPDI:: NC_000001.11:32810917:C:T
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32810918C>T, NC_000001.10:g.33276519C>T, NG_008408.1:g.12115G>A, NM_003680.4:c.197G>A, NM_003680.3:c.197G>A, NP_003671.1:p.Gly66Glu

Select item 147409611912.

rs1474096119 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTC>- [Show Flanks]
Chromosome:: 1:32779421 (GRCh38)
1:33245022 (GRCh37)
Canonical SPDI:: NC_000001.11:32779417:CTCCTC:CTC
Gene:: YARS1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCTC=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.32779418CTC[1], NC_000001.10:g.33245019CTC[1], NG_008408.1:g.43610GAG[1], NM_003680.4:c.1435GAG[1], NM_003680.3:c.1435GAG[1], XM_011542347.3:c.805GAG[1], XM_011542347.2:c.805GAG[1], XM_011542347.1:c.805GAG[1], NP_003671.1:p.Glu480del, XP_011540649.1:p.Glu270del

Select item 147388426113.

rs1473884261 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:32811035 (GRCh38)
1:33276636 (GRCh37)
Canonical SPDI:: NC_000001.11:32811034:A:G
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32811035A>G, NC_000001.10:g.33276636A>G, NG_008408.1:g.11998T>C, NM_003680.4:c.80T>C, NM_003680.3:c.80T>C, NP_003671.1:p.Leu27Pro

Select item 147318466614.

rs1473184666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:32806490 (GRCh38)
1:33272091 (GRCh37)
Canonical SPDI:: NC_000001.11:32806489:C:T
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.32806490C>T, NC_000001.10:g.33272091C>T, NG_008408.1:g.16543G>A, NM_003680.4:c.502G>A, NM_003680.3:c.502G>A, XM_011542347.3:c.-129G>A, XM_011542347.2:c.-129G>A, XM_011542347.1:c.-129G>A, NP_003671.1:p.Gly168Arg

Select item 147089824815.

rs1470898248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:32806568 (GRCh38)
1:33272169 (GRCh37)
Canonical SPDI:: NC_000001.11:32806567:G:T
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.32806568G>T, NC_000001.10:g.33272169G>T, NG_008408.1:g.16465C>A, NM_003680.4:c.424C>A, NM_003680.3:c.424C>A, XM_011542347.3:c.-207C>A, XM_011542347.2:c.-207C>A, XM_011542347.1:c.-207C>A, NP_003671.1:p.Gln142Lys

Select item 147047131316.

rs1470471313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32787013 (GRCh38)
1:33252614 (GRCh37)
Canonical SPDI:: NC_000001.11:32787012:G:A
Gene:: YARS1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32787013G>A, NC_000001.10:g.33252614G>A, NG_008408.1:g.36020C>T, NM_003680.4:c.747C>T, NM_003680.3:c.747C>T, NG_082012.1:g.786G>A, XM_011542347.3:c.117C>T, XM_011542347.2:c.117C>T, XM_011542347.1:c.117C>T

Select item 146904127617.

rs1469041276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32797815 (GRCh38)
1:33263416 (GRCh37)
Canonical SPDI:: NC_000001.11:32797814:T:C
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.32797815T>C, NC_000001.10:g.33263416T>C, NG_008408.1:g.25218A>G, NM_003680.4:c.539A>G, NM_003680.3:c.539A>G, XM_011542347.3:c.-92A>G, XM_011542347.2:c.-92A>G, XM_011542347.1:c.-92A>G, NP_003671.1:p.Asp180Gly

Select item 146818340018.

rs1468183400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:32817231 (GRCh38)
1:33282832 (GRCh37)
Canonical SPDI:: NC_000001.11:32817230:G:C
Gene:: YARS1 (Varview), S100PBP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32817231G>C, NC_000001.10:g.33282832G>C, NG_008408.1:g.5802C>G, NM_003680.4:c.14C>G, NM_003680.3:c.14C>G, NG_031988.1:g.4790G>C, XM_011542347.3:c.-294C>G, XM_011542347.2:c.-294C>G, XM_011542347.1:c.-294C>G, NP_003671.1:p.Pro5Arg

Select item 146744663719.

rs1467446637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:32810649 (GRCh38)
1:33276250 (GRCh37)
Canonical SPDI:: NC_000001.11:32810648:T:C
Gene:: YARS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.32810649T>C, NC_000001.10:g.33276250T>C, NG_008408.1:g.12384A>G, NM_003680.4:c.322A>G, NM_003680.3:c.322A>G, NP_003671.1:p.Ile108Val

Select item 146711150720.

rs1467111507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:32776014 (GRCh38)
1:33241615 (GRCh37)
Canonical SPDI:: NC_000001.11:32776013:G:A
Gene:: YARS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.32776014G>A, NC_000001.10:g.33241615G>A, NG_008408.1:g.47019C>T, NM_003680.4:c.1554C>T, NM_003680.3:c.1554C>T, XM_011542347.3:c.924C>T, XM_011542347.2:c.924C>T, XM_011542347.1:c.924C>T

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