SNP Links for Protein (Select 67782362) - SNP

Links from Protein

Items: 1 to 20 of 1147

<< First< Prev

Page of 58

Next >Last >>

Select item 14908676181.

rs1490867618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55307520 (GRCh38)
5:54603348 (GRCh37)
Canonical SPDI:: NC_000005.10:55307519:G:A
Gene:: MTREX (Varview), DHX29 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55307520G>A, NC_000005.9:g.54603348G>A, NG_051592.1:g.5203C>T, NM_019030.4:c.54C>T, NM_019030.3:c.54C>T, NM_019030.2:c.54C>T, NM_001345965.2:c.-1942C>T, NM_001345965.1:c.-1942C>T, NR_144323.2:n.175C>T, NR_144323.1:n.203C>T, NR_144324.2:n.175C>T, NR_144324.1:n.203C>T, NR_144325.2:n.175C>T, NR_144325.1:n.203C>T, NM_001345964.2:c.54C>T, NM_001345964.1:c.54C>T

Select item 14899405832.

rs1489940583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:55307514 (GRCh38)
5:54603342 (GRCh37)
Canonical SPDI:: NC_000005.10:55307513:C:G
Gene:: MTREX (Varview), DHX29 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55307514C>G, NC_000005.9:g.54603342C>G, NG_051592.1:g.5209G>C, NM_019030.4:c.60G>C, NM_019030.3:c.60G>C, NM_019030.2:c.60G>C, NM_001345965.2:c.-1936G>C, NM_001345965.1:c.-1936G>C, NR_144323.2:n.181G>C, NR_144323.1:n.209G>C, NR_144324.2:n.181G>C, NR_144324.1:n.209G>C, NR_144325.2:n.181G>C, NR_144325.1:n.209G>C, NM_001345964.2:c.60G>C, NM_001345964.1:c.60G>C

Select item 14893729563.

rs1489372956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55296251 (GRCh38)
5:54592079 (GRCh37)
Canonical SPDI:: NC_000005.10:55296250:G:A
Gene:: DHX29 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000005.10:g.55296251G>A, NC_000005.9:g.54592079G>A, NG_051592.1:g.16472C>T, NM_019030.4:c.474C>T, NM_019030.3:c.474C>T, NM_019030.2:c.474C>T, NM_001345965.2:c.-1522C>T, NM_001345965.1:c.-1522C>T, NR_144323.2:n.595C>T, NR_144323.1:n.623C>T, NR_144324.2:n.595C>T, NR_144324.1:n.623C>T, NR_144325.2:n.595C>T, NR_144325.1:n.623C>T, NM_001345964.2:c.474C>T, NM_001345964.1:c.474C>T

Select item 14889424904.

rs1488942490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55270617 (GRCh38)
5:54566445 (GRCh37)
Canonical SPDI:: NC_000005.10:55270616:A:G
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55270617A>G, NC_000005.9:g.54566445A>G, NG_051592.1:g.42106T>C, NM_019030.4:c.2954T>C, NM_019030.3:c.2954T>C, NM_019030.2:c.2954T>C, NM_001345965.2:c.1046T>C, NM_001345965.1:c.1046T>C, NR_144323.2:n.3075T>C, NR_144323.1:n.3103T>C, NR_144324.2:n.3124T>C, NR_144324.1:n.3152T>C, NR_144325.2:n.2971T>C, NR_144325.1:n.2999T>C, NM_001345964.2:c.2801T>C, NM_001345964.1:c.2801T>C, NP_061903.2:p.Val985Ala, NP_001332894.1:p.Val349Ala, NP_001332893.1:p.Val934Ala

Select item 14887334745.

rs1488733474 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTG [Show Flanks]
Chromosome:: 5:55283650 (GRCh38)
5:54579479 (GRCh37)
Canonical SPDI:: NC_000005.10:55283650:TGCTGCTG:TGCTGCTGCTG
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: 5_prime_UTR_variant,inframe_insertion,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: TGC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55283653CTG[3], NC_000005.9:g.54579481CTG[3], NG_051592.1:g.29067GCA[3], NM_019030.4:c.1512GCA[3], NM_019030.3:c.1512GCA[3], NM_019030.2:c.1512GCA[3], NM_001345965.2:c.-484GCA[3], NM_001345965.1:c.-484GCA[3], NR_144323.2:n.1633GCA[3], NR_144323.1:n.1661GCA[3], NR_144324.2:n.1633GCA[3], NR_144324.1:n.1661GCA[3], NR_144325.2:n.1633GCA[3], NR_144325.1:n.1661GCA[3], NM_001345964.2:c.1512GCA[3], NM_001345964.1:c.1512GCA[3], XR_001742666.2:n.1871CTG[3], XR_007058771.1:n.1871CTG[3], NP_061903.2:p.Gln508dup, NP_001332893.1:p.Gln508dup

Select item 14880137876.

rs1488013787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55285308 (GRCh38)
5:54581136 (GRCh37)
Canonical SPDI:: NC_000005.10:55285307:A:G
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55285308A>G, NC_000005.9:g.54581136A>G, NG_051592.1:g.27415T>C, NM_019030.4:c.1341T>C, NM_019030.3:c.1341T>C, NM_019030.2:c.1341T>C, NM_001345965.2:c.-655T>C, NM_001345965.1:c.-655T>C, NR_144323.2:n.1462T>C, NR_144323.1:n.1490T>C, NR_144324.2:n.1462T>C, NR_144324.1:n.1490T>C, NR_144325.2:n.1462T>C, NR_144325.1:n.1490T>C, NM_001345964.2:c.1341T>C, NM_001345964.1:c.1341T>C

Select item 14874747857.

rs1487474785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:55295452 (GRCh38)
5:54591280 (GRCh37)
Canonical SPDI:: NC_000005.10:55295451:G:C
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_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_000005.10:g.55295452G>C, NC_000005.9:g.54591280G>C, NG_051592.1:g.17271C>G, NM_019030.4:c.578C>G, NM_019030.3:c.578C>G, NM_019030.2:c.578C>G, NM_001345965.2:c.-1418C>G, NM_001345965.1:c.-1418C>G, NR_144323.2:n.699C>G, NR_144323.1:n.727C>G, NR_144324.2:n.699C>G, NR_144324.1:n.727C>G, NR_144325.2:n.699C>G, NR_144325.1:n.727C>G, NM_001345964.2:c.578C>G, NM_001345964.1:c.578C>G, XR_001742666.2:n.2659G>C, NP_061903.2:p.Pro193Arg, NP_001332893.1:p.Pro193Arg

Select item 14861121298.

rs1486112129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:55256492 (GRCh38)
5:54552320 (GRCh37)
Canonical SPDI:: NC_000005.10:55256491:T:A
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55256492T>A, NC_000005.9:g.54552320T>A, NG_051592.1:g.56231A>T, NM_019030.4:c.4106A>T, NM_019030.3:c.4106A>T, NM_019030.2:c.4106A>T, NM_001345965.2:c.2198A>T, NM_001345965.1:c.2198A>T, NR_144323.2:n.4307A>T, NR_144323.1:n.4335A>T, NR_144324.2:n.4276A>T, NR_144324.1:n.4304A>T, NR_144325.2:n.4123A>T, NR_144325.1:n.4151A>T, NM_001345964.2:c.3953A>T, NM_001345964.1:c.3953A>T, NP_061903.2:p.Asn1369Ile, NP_001332894.1:p.Asn733Ile, NP_001332893.1:p.Asn1318Ile

Select item 14857927869.

rs1485792786 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55276383 (GRCh38)
5:54572211 (GRCh37)
Canonical SPDI:: NC_000005.10:55276382:T:C
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.55276383T>C, NC_000005.9:g.54572211T>C, NG_051592.1:g.36340A>G, NM_019030.4:c.2310A>G, NM_019030.3:c.2310A>G, NM_019030.2:c.2310A>G, NM_001345965.2:c.402A>G, NM_001345965.1:c.402A>G, NR_144323.2:n.2431A>G, NR_144323.1:n.2459A>G, NR_144324.2:n.2431A>G, NR_144324.1:n.2459A>G, NR_144325.2:n.2278A>G, NR_144325.1:n.2306A>G, NM_001345964.2:c.2157A>G, NM_001345964.1:c.2157A>G, NP_061903.2:p.Ile770Met, NP_001332894.1:p.Ile134Met, NP_001332893.1:p.Ile719Met

Select item 148546989010.

rs1485469890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:55283739 (GRCh38)
5:54579567 (GRCh37)
Canonical SPDI:: NC_000005.10:55283738:C:T
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
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_000005.10:g.55283739C>T, NC_000005.9:g.54579567C>T, NG_051592.1:g.28984G>A, NM_019030.4:c.1429G>A, NM_019030.3:c.1429G>A, NM_019030.2:c.1429G>A, NM_001345965.2:c.-567G>A, NM_001345965.1:c.-567G>A, NR_144323.2:n.1550G>A, NR_144323.1:n.1578G>A, NR_144324.2:n.1550G>A, NR_144324.1:n.1578G>A, NR_144325.2:n.1550G>A, NR_144325.1:n.1578G>A, NM_001345964.2:c.1429G>A, NM_001345964.1:c.1429G>A, XR_001742666.2:n.1957C>T, XR_007058771.1:n.1957C>T, NP_061903.2:p.Glu477Lys, NP_001332893.1:p.Glu477Lys

Select item 148392679011.

rs1483926790 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55290333 (GRCh38)
5:54586161 (GRCh37)
Canonical SPDI:: NC_000005.10:55290332:G:A
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.55290333G>A, NC_000005.9:g.54586161G>A, NG_051592.1:g.22390C>T, NM_019030.4:c.792C>T, NM_019030.3:c.792C>T, NM_019030.2:c.792C>T, NM_001345965.2:c.-1204C>T, NM_001345965.1:c.-1204C>T, NR_144323.2:n.913C>T, NR_144323.1:n.941C>T, NR_144324.2:n.913C>T, NR_144324.1:n.941C>T, NR_144325.2:n.913C>T, NR_144325.1:n.941C>T, NM_001345964.2:c.792C>T, NM_001345964.1:c.792C>T

Select item 148392133112.

rs1483921331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:55283601 (GRCh38)
5:54579429 (GRCh37)
Canonical SPDI:: NC_000005.10:55283600:A:G
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.55283601A>G, NC_000005.9:g.54579429A>G, NG_051592.1:g.29122T>C, NM_019030.4:c.1567T>C, NM_019030.3:c.1567T>C, NM_019030.2:c.1567T>C, NM_001345965.2:c.-429T>C, NM_001345965.1:c.-429T>C, NR_144323.2:n.1688T>C, NR_144323.1:n.1716T>C, NR_144324.2:n.1688T>C, NR_144324.1:n.1716T>C, NR_144325.2:n.1688T>C, NR_144325.1:n.1716T>C, NM_001345964.2:c.1567T>C, NM_001345964.1:c.1567T>C, XR_001742666.2:n.1819A>G, XR_007058771.1:n.1819A>G, NP_061903.2:p.Ser523Pro, NP_001332893.1:p.Ser523Pro

Select item 148325583613.

rs1483255836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55259869 (GRCh38)
5:54555697 (GRCh37)
Canonical SPDI:: NC_000005.10:55259868:T:C
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.55259869T>C, NC_000005.9:g.54555697T>C, NG_051592.1:g.52854A>G, NM_019030.4:c.4036A>G, NM_019030.3:c.4036A>G, NM_019030.2:c.4036A>G, NM_001345965.2:c.2128A>G, NM_001345965.1:c.2128A>G, NR_144323.2:n.4237A>G, NR_144323.1:n.4265A>G, NR_144324.2:n.4206A>G, NR_144324.1:n.4234A>G, NR_144325.2:n.4053A>G, NR_144325.1:n.4081A>G, NM_001345964.2:c.3883A>G, NM_001345964.1:c.3883A>G, NP_061903.2:p.Asn1346Asp, NP_001332894.1:p.Asn710Asp, NP_001332893.1:p.Asn1295Asp

Select item 148293722314.

rs1482937223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:55290245 (GRCh38)
5:54586073 (GRCh37)
Canonical SPDI:: NC_000005.10:55290244:G:A
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55290245G>A, NC_000005.9:g.54586073G>A, NG_051592.1:g.22478C>T, NM_019030.4:c.880C>T, NM_019030.3:c.880C>T, NM_019030.2:c.880C>T, NM_001345965.2:c.-1116C>T, NM_001345965.1:c.-1116C>T, NR_144323.2:n.1001C>T, NR_144323.1:n.1029C>T, NR_144324.2:n.1001C>T, NR_144324.1:n.1029C>T, NR_144325.2:n.1001C>T, NR_144325.1:n.1029C>T, NM_001345964.2:c.880C>T, NM_001345964.1:c.880C>T, NP_061903.2:p.Gln294Ter, NP_001332893.1:p.Gln294Ter

Select item 148270834215.

rs1482708342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:55269417 (GRCh38)
5:54565245 (GRCh37)
Canonical SPDI:: NC_000005.10:55269416:G:T
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55269417G>T, NC_000005.9:g.54565245G>T, NG_051592.1:g.43306C>A, NM_019030.4:c.3290C>A, NM_019030.3:c.3290C>A, NM_019030.2:c.3290C>A, NM_001345965.2:c.1382C>A, NM_001345965.1:c.1382C>A, NR_144323.2:n.3411C>A, NR_144323.1:n.3439C>A, NR_144324.2:n.3460C>A, NR_144324.1:n.3488C>A, NR_144325.2:n.3307C>A, NR_144325.1:n.3335C>A, NM_001345964.2:c.3137C>A, NM_001345964.1:c.3137C>A, NP_061903.2:p.Pro1097Gln, NP_001332894.1:p.Pro461Gln, NP_001332893.1:p.Pro1046Gln

Select item 148230934916.

rs1482309349 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55274920 (GRCh38)
5:54570748 (GRCh37)
Canonical SPDI:: NC_000005.10:55274919:T:C
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55274920T>C, NC_000005.9:g.54570748T>C, NG_051592.1:g.37803A>G, NM_019030.4:c.2518A>G, NM_019030.3:c.2518A>G, NM_019030.2:c.2518A>G, NM_001345965.2:c.610A>G, NM_001345965.1:c.610A>G, NR_144323.2:n.2639A>G, NR_144323.1:n.2667A>G, NR_144324.2:n.2639A>G, NR_144324.1:n.2667A>G, NR_144325.2:n.2486A>G, NR_144325.1:n.2514A>G, NM_001345964.2:c.2365A>G, NM_001345964.1:c.2365A>G, NP_061903.2:p.Met840Val, NP_001332894.1:p.Met204Val, NP_001332893.1:p.Met789Val

Select item 148226351317.

rs1482263513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:55285742 (GRCh38)
5:54581570 (GRCh37)
Canonical SPDI:: NC_000005.10:55285741:T:C,NC_000005.10:55285741:T:G
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.55285742T>C, NC_000005.10:g.55285742T>G, NC_000005.9:g.54581570T>C, NC_000005.9:g.54581570T>G, NG_051592.1:g.26981A>G, NG_051592.1:g.26981A>C, NM_019030.4:c.1186A>G, NM_019030.4:c.1186A>C, NM_019030.3:c.1186A>G, NM_019030.3:c.1186A>C, NM_019030.2:c.1186A>G, NM_019030.2:c.1186A>C, NM_001345965.2:c.-810A>G, NM_001345965.2:c.-810A>C, NM_001345965.1:c.-810A>G, NM_001345965.1:c.-810A>C, NR_144323.2:n.1307A>G, NR_144323.2:n.1307A>C, NR_144323.1:n.1335A>G, NR_144323.1:n.1335A>C, NR_144324.2:n.1307A>G, NR_144324.2:n.1307A>C, NR_144324.1:n.1335A>G, NR_144324.1:n.1335A>C, NR_144325.2:n.1307A>G, NR_144325.2:n.1307A>C, NR_144325.1:n.1335A>G, NR_144325.1:n.1335A>C, NM_001345964.2:c.1186A>G, NM_001345964.2:c.1186A>C, NM_001345964.1:c.1186A>G, NM_001345964.1:c.1186A>C, NP_061903.2:p.Asn396Asp, NP_061903.2:p.Asn396His, NP_001332893.1:p.Asn396Asp, NP_001332893.1:p.Asn396His

Select item 148175618718.

rs1481756187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:55274932 (GRCh38)
5:54570760 (GRCh37)
Canonical SPDI:: NC_000005.10:55274931:C:T
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.55274932C>T, NC_000005.9:g.54570760C>T, NG_051592.1:g.37791G>A, NM_019030.4:c.2506G>A, NM_019030.3:c.2506G>A, NM_019030.2:c.2506G>A, NM_001345965.2:c.598G>A, NM_001345965.1:c.598G>A, NR_144323.2:n.2627G>A, NR_144323.1:n.2655G>A, NR_144324.2:n.2627G>A, NR_144324.1:n.2655G>A, NR_144325.2:n.2474G>A, NR_144325.1:n.2502G>A, NM_001345964.2:c.2353G>A, NM_001345964.1:c.2353G>A, NP_061903.2:p.Ala836Thr, NP_001332894.1:p.Ala200Thr, NP_001332893.1:p.Ala785Thr

Select item 148142603019.

rs1481426030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:55295469 (GRCh38)
5:54591297 (GRCh37)
Canonical SPDI:: NC_000005.10:55295468:C:A
Gene:: DHX29 (Varview), LOC105378973 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.55295469C>A, NC_000005.9:g.54591297C>A, NG_051592.1:g.17254G>T, NM_019030.4:c.561G>T, NM_019030.3:c.561G>T, NM_019030.2:c.561G>T, NM_001345965.2:c.-1435G>T, NM_001345965.1:c.-1435G>T, NR_144323.2:n.682G>T, NR_144323.1:n.710G>T, NR_144324.2:n.682G>T, NR_144324.1:n.710G>T, NR_144325.2:n.682G>T, NR_144325.1:n.710G>T, NM_001345964.2:c.561G>T, NM_001345964.1:c.561G>T, XR_001742666.2:n.2676C>A, NP_061903.2:p.Arg187Ser, NP_001332893.1:p.Arg187Ser

Select item 148110372420.

rs1481103724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:55298638 (GRCh38)
5:54594466 (GRCh37)
Canonical SPDI:: NC_000005.10:55298637:T:C
Gene:: DHX29 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.55298638T>C, NC_000005.9:g.54594466T>C, NG_051592.1:g.14085A>G, NM_019030.4:c.214A>G, NM_019030.3:c.214A>G, NM_019030.2:c.214A>G, NM_001345965.2:c.-1782A>G, NM_001345965.1:c.-1782A>G, NR_144323.2:n.335A>G, NR_144323.1:n.363A>G, NR_144324.2:n.335A>G, NR_144324.1:n.363A>G, NR_144325.2:n.335A>G, NR_144325.1:n.363A>G, NM_001345964.2:c.214A>G, NM_001345964.1:c.214A>G, NP_061903.2:p.Thr72Ala, NP_001332893.1:p.Thr72Ala

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 1147

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity