SNP Links for Protein (Select 530387095) - SNP

Links from Protein

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Select item 14907830301.

rs1490783030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140041830 (GRCh38)
7:139741630 (GRCh37)
Canonical SPDI:: NC_000007.14:140041829:G:A
Gene:: PARP12 (Varview)
Functional Consequence:: 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 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.140041830G>A, NC_000007.13:g.139741630G>A, XM_005250039.5:c.996C>T, XM_005250039.4:c.996C>T, XM_005250039.3:c.996C>T, XM_005250039.2:c.996C>T, XM_005250039.1:c.996C>T, XM_005250040.5:c.996C>T, XM_005250040.4:c.996C>T, XM_005250040.3:c.996C>T, XM_005250040.2:c.996C>T, XM_005250040.1:c.996C>T, XM_005250038.4:c.996C>T, XM_005250038.3:c.996C>T, XM_005250038.2:c.996C>T, XM_005250038.1:c.996C>T, NM_022750.4:c.996C>T, NM_022750.3:c.996C>T, NM_022750.2:c.996C>T, XR_927514.3:n.1100C>T, XR_927514.2:n.1865C>T, XR_927514.1:n.1956C>T, NR_130117.2:n.1100C>T, NR_130117.1:n.1870C>T, XM_047420739.1:c.996C>T, XM_047420741.1:c.996C>T, XM_047420742.1:c.996C>T

Select item 14898894762.

rs1489889476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:140038274 (GRCh38)
7:139738074 (GRCh37)
Canonical SPDI:: NC_000007.14:140038273:G:C
Gene:: PARP12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000072/19 (TOPMED)
C=0.000078/11 (GnomAD)
HGVS:: NC_000007.14:g.140038274G>C, NC_000007.13:g.139738074G>C, XM_005250040.5:c.1220C>G, XM_005250040.4:c.1220C>G, XM_005250040.3:c.1220C>G, XM_005250040.2:c.1220C>G, XM_005250040.1:c.1220C>G, XP_005250097.1:p.Ala407Gly

Select item 14895671523.

rs1489567152 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:140062817 (GRCh38)
7:139762617 (GRCh37)
Canonical SPDI:: NC_000007.14:140062816:T:C
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.140062817T>C, NC_000007.13:g.139762617T>C, XM_005250039.5:c.31A>G, XM_005250039.4:c.31A>G, XM_005250039.3:c.31A>G, XM_005250039.2:c.31A>G, XM_005250039.1:c.31A>G, XM_005250040.5:c.31A>G, XM_005250040.4:c.31A>G, XM_005250040.3:c.31A>G, XM_005250040.2:c.31A>G, XM_005250040.1:c.31A>G, XM_005250038.4:c.31A>G, XM_005250038.3:c.31A>G, XM_005250038.2:c.31A>G, XM_005250038.1:c.31A>G, NM_022750.4:c.31A>G, NM_022750.3:c.31A>G, NM_022750.2:c.31A>G, XR_927514.3:n.135A>G, XR_927514.2:n.900A>G, XR_927514.1:n.991A>G, NR_130117.2:n.135A>G, NR_130117.1:n.905A>G, XM_047420739.1:c.31A>G, XM_047420741.1:c.31A>G, XM_047420742.1:c.31A>G, XP_005250096.1:p.Thr11Ala, XP_005250097.1:p.Thr11Ala, XP_005250095.1:p.Thr11Ala, NP_073587.1:p.Thr11Ala, XP_047276695.1:p.Thr11Ala, XP_047276697.1:p.Thr11Ala, XP_047276698.1:p.Thr11Ala

Select item 14873394474.

rs1487339447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140062569 (GRCh38)
7:139762369 (GRCh37)
Canonical SPDI:: NC_000007.14:140062568:G:A
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.140062569G>A, NC_000007.13:g.139762369G>A, XM_005250039.5:c.279C>T, XM_005250039.4:c.279C>T, XM_005250039.3:c.279C>T, XM_005250039.2:c.279C>T, XM_005250039.1:c.279C>T, XM_005250040.5:c.279C>T, XM_005250040.4:c.279C>T, XM_005250040.3:c.279C>T, XM_005250040.2:c.279C>T, XM_005250040.1:c.279C>T, XM_005250038.4:c.279C>T, XM_005250038.3:c.279C>T, XM_005250038.2:c.279C>T, XM_005250038.1:c.279C>T, NM_022750.4:c.279C>T, NM_022750.3:c.279C>T, NM_022750.2:c.279C>T, XR_927514.3:n.383C>T, XR_927514.2:n.1148C>T, XR_927514.1:n.1239C>T, NR_130117.2:n.383C>T, NR_130117.1:n.1153C>T, XM_047420739.1:c.279C>T, XM_047420741.1:c.279C>T, XM_047420742.1:c.279C>T

Select item 14805503835.

rs1480550383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140062684 (GRCh38)
7:139762484 (GRCh37)
Canonical SPDI:: NC_000007.14:140062683:G:A
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000142/2 (TOMMO)
A=0.000568/1 (Korea1K)
HGVS:: NC_000007.14:g.140062684G>A, NC_000007.13:g.139762484G>A, XM_005250039.5:c.164C>T, XM_005250039.4:c.164C>T, XM_005250039.3:c.164C>T, XM_005250039.2:c.164C>T, XM_005250039.1:c.164C>T, XM_005250040.5:c.164C>T, XM_005250040.4:c.164C>T, XM_005250040.3:c.164C>T, XM_005250040.2:c.164C>T, XM_005250040.1:c.164C>T, XM_005250038.4:c.164C>T, XM_005250038.3:c.164C>T, XM_005250038.2:c.164C>T, XM_005250038.1:c.164C>T, NM_022750.4:c.164C>T, NM_022750.3:c.164C>T, NM_022750.2:c.164C>T, XR_927514.3:n.268C>T, XR_927514.2:n.1033C>T, XR_927514.1:n.1124C>T, NR_130117.2:n.268C>T, NR_130117.1:n.1038C>T, XM_047420739.1:c.164C>T, XM_047420741.1:c.164C>T, XM_047420742.1:c.164C>T, XP_005250096.1:p.Ala55Val, XP_005250097.1:p.Ala55Val, XP_005250095.1:p.Ala55Val, NP_073587.1:p.Ala55Val, XP_047276695.1:p.Ala55Val, XP_047276697.1:p.Ala55Val, XP_047276698.1:p.Ala55Val

Select item 14805217296.

rs1480521729 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:140062750 (GRCh38)
7:139762550 (GRCh37)
Canonical SPDI:: NC_000007.14:140062749:C:A,NC_000007.14:140062749:C:G
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.140062750C>A, NC_000007.14:g.140062750C>G, NC_000007.13:g.139762550C>A, NC_000007.13:g.139762550C>G, XM_005250039.5:c.98G>T, XM_005250039.5:c.98G>C, XM_005250039.4:c.98G>T, XM_005250039.4:c.98G>C, XM_005250039.3:c.98G>T, XM_005250039.3:c.98G>C, XM_005250039.2:c.98G>T, XM_005250039.2:c.98G>C, XM_005250039.1:c.98G>T, XM_005250039.1:c.98G>C, XM_005250040.5:c.98G>T, XM_005250040.5:c.98G>C, XM_005250040.4:c.98G>T, XM_005250040.4:c.98G>C, XM_005250040.3:c.98G>T, XM_005250040.3:c.98G>C, XM_005250040.2:c.98G>T, XM_005250040.2:c.98G>C, XM_005250040.1:c.98G>T, XM_005250040.1:c.98G>C, XM_005250038.4:c.98G>T, XM_005250038.4:c.98G>C, XM_005250038.3:c.98G>T, XM_005250038.3:c.98G>C, XM_005250038.2:c.98G>T, XM_005250038.2:c.98G>C, XM_005250038.1:c.98G>T, XM_005250038.1:c.98G>C, NM_022750.4:c.98G>T, NM_022750.4:c.98G>C, NM_022750.3:c.98G>T, NM_022750.3:c.98G>C, NM_022750.2:c.98G>T, NM_022750.2:c.98G>C, XR_927514.3:n.202G>T, XR_927514.3:n.202G>C, XR_927514.2:n.967G>T, XR_927514.2:n.967G>C, XR_927514.1:n.1058G>T, XR_927514.1:n.1058G>C, NR_130117.2:n.202G>T, NR_130117.2:n.202G>C, NR_130117.1:n.972G>T, NR_130117.1:n.972G>C, XM_047420739.1:c.98G>T, XM_047420739.1:c.98G>C, XM_047420741.1:c.98G>T, XM_047420741.1:c.98G>C, XM_047420742.1:c.98G>T, XM_047420742.1:c.98G>C, XP_005250096.1:p.Gly33Val, XP_005250096.1:p.Gly33Ala, XP_005250097.1:p.Gly33Val, XP_005250097.1:p.Gly33Ala, XP_005250095.1:p.Gly33Val, XP_005250095.1:p.Gly33Ala, NP_073587.1:p.Gly33Val, NP_073587.1:p.Gly33Ala, XP_047276695.1:p.Gly33Val, XP_047276695.1:p.Gly33Ala, XP_047276697.1:p.Gly33Val, XP_047276697.1:p.Gly33Ala, XP_047276698.1:p.Gly33Val, XP_047276698.1:p.Gly33Ala

Select item 14770256477.

rs1477025647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140057079 (GRCh38)
7:139756879 (GRCh37)
Canonical SPDI:: NC_000007.14:140057078:A:G
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.140057079A>G, NC_000007.13:g.139756879A>G, XM_005250039.5:c.537T>C, XM_005250039.4:c.537T>C, XM_005250039.3:c.537T>C, XM_005250039.2:c.537T>C, XM_005250039.1:c.537T>C, XM_005250040.5:c.537T>C, XM_005250040.4:c.537T>C, XM_005250040.3:c.537T>C, XM_005250040.2:c.537T>C, XM_005250040.1:c.537T>C, XM_005250038.4:c.537T>C, XM_005250038.3:c.537T>C, XM_005250038.2:c.537T>C, XM_005250038.1:c.537T>C, NM_022750.4:c.537T>C, NM_022750.3:c.537T>C, NM_022750.2:c.537T>C, XR_927514.3:n.641T>C, XR_927514.2:n.1406T>C, XR_927514.1:n.1497T>C, NR_130117.2:n.641T>C, NR_130117.1:n.1411T>C, XM_047420739.1:c.537T>C, XM_047420741.1:c.537T>C, XM_047420742.1:c.537T>C

Select item 14769209488.

rs1476920948 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:140062532 (GRCh38)
7:139762332 (GRCh37)
Canonical SPDI:: NC_000007.14:140062531:G:C
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.140062532G>C, NC_000007.13:g.139762332G>C, XM_005250039.5:c.316C>G, XM_005250039.4:c.316C>G, XM_005250039.3:c.316C>G, XM_005250039.2:c.316C>G, XM_005250039.1:c.316C>G, XM_005250040.5:c.316C>G, XM_005250040.4:c.316C>G, XM_005250040.3:c.316C>G, XM_005250040.2:c.316C>G, XM_005250040.1:c.316C>G, XM_005250038.4:c.316C>G, XM_005250038.3:c.316C>G, XM_005250038.2:c.316C>G, XM_005250038.1:c.316C>G, NM_022750.4:c.316C>G, NM_022750.3:c.316C>G, NM_022750.2:c.316C>G, XR_927514.3:n.420C>G, XR_927514.2:n.1185C>G, XR_927514.1:n.1276C>G, NR_130117.2:n.420C>G, NR_130117.1:n.1190C>G, XM_047420739.1:c.316C>G, XM_047420741.1:c.316C>G, XM_047420742.1:c.316C>G, XP_005250096.1:p.Leu106Val, XP_005250097.1:p.Leu106Val, XP_005250095.1:p.Leu106Val, NP_073587.1:p.Leu106Val, XP_047276695.1:p.Leu106Val, XP_047276697.1:p.Leu106Val, XP_047276698.1:p.Leu106Val

Select item 14657702429.

rs1465770242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:140062698 (GRCh38)
7:139762498 (GRCh37)
Canonical SPDI:: NC_000007.14:140062697:C:A,NC_000007.14:140062697:C:T
Gene:: PARP12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000045/12 (TOPMED)
T=0.000103/5 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140062698C>A, NC_000007.14:g.140062698C>T, NC_000007.13:g.139762498C>A, NC_000007.13:g.139762498C>T, XM_005250039.5:c.150G>T, XM_005250039.5:c.150G>A, XM_005250039.4:c.150G>T, XM_005250039.4:c.150G>A, XM_005250039.3:c.150G>T, XM_005250039.3:c.150G>A, XM_005250039.2:c.150G>T, XM_005250039.2:c.150G>A, XM_005250039.1:c.150G>T, XM_005250039.1:c.150G>A, XM_005250040.5:c.150G>T, XM_005250040.5:c.150G>A, XM_005250040.4:c.150G>T, XM_005250040.4:c.150G>A, XM_005250040.3:c.150G>T, XM_005250040.3:c.150G>A, XM_005250040.2:c.150G>T, XM_005250040.2:c.150G>A, XM_005250040.1:c.150G>T, XM_005250040.1:c.150G>A, XM_005250038.4:c.150G>T, XM_005250038.4:c.150G>A, XM_005250038.3:c.150G>T, XM_005250038.3:c.150G>A, XM_005250038.2:c.150G>T, XM_005250038.2:c.150G>A, XM_005250038.1:c.150G>T, XM_005250038.1:c.150G>A, NM_022750.4:c.150G>T, NM_022750.4:c.150G>A, NM_022750.3:c.150G>T, NM_022750.3:c.150G>A, NM_022750.2:c.150G>T, NM_022750.2:c.150G>A, XR_927514.3:n.254G>T, XR_927514.3:n.254G>A, XR_927514.2:n.1019G>T, XR_927514.2:n.1019G>A, XR_927514.1:n.1110G>T, XR_927514.1:n.1110G>A, NR_130117.2:n.254G>T, NR_130117.2:n.254G>A, NR_130117.1:n.1024G>T, NR_130117.1:n.1024G>A, XM_047420739.1:c.150G>T, XM_047420739.1:c.150G>A, XM_047420741.1:c.150G>T, XM_047420741.1:c.150G>A, XM_047420742.1:c.150G>T, XM_047420742.1:c.150G>A

Select item 146056521110.

rs1460565211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:140041654 (GRCh38)
7:139741454 (GRCh37)
Canonical SPDI:: NC_000007.14:140041653:T:C
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140041654T>C, NC_000007.13:g.139741454T>C, XM_005250039.5:c.1172A>G, XM_005250039.4:c.1172A>G, XM_005250039.3:c.1172A>G, XM_005250039.2:c.1172A>G, XM_005250039.1:c.1172A>G, XM_005250040.5:c.1172A>G, XM_005250040.4:c.1172A>G, XM_005250040.3:c.1172A>G, XM_005250040.2:c.1172A>G, XM_005250040.1:c.1172A>G, XM_005250038.4:c.1172A>G, XM_005250038.3:c.1172A>G, XM_005250038.2:c.1172A>G, XM_005250038.1:c.1172A>G, NM_022750.4:c.1172A>G, NM_022750.3:c.1172A>G, NM_022750.2:c.1172A>G, XR_927514.3:n.1276A>G, XR_927514.2:n.2041A>G, XR_927514.1:n.2132A>G, NR_130117.2:n.1276A>G, NR_130117.1:n.2046A>G, XM_047420739.1:c.1172A>G, XM_047420741.1:c.1172A>G, XM_047420742.1:c.1172A>G, XP_005250096.1:p.Tyr391Cys, XP_005250097.1:p.Tyr391Cys, XP_005250095.1:p.Tyr391Cys, NP_073587.1:p.Tyr391Cys, XP_047276695.1:p.Tyr391Cys, XP_047276697.1:p.Tyr391Cys, XP_047276698.1:p.Tyr391Cys

Select item 145902967011.

rs1459029670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140062637 (GRCh38)
7:139762437 (GRCh37)
Canonical SPDI:: NC_000007.14:140062636:G:A
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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_000007.14:g.140062637G>A, NC_000007.13:g.139762437G>A, XM_005250039.5:c.211C>T, XM_005250039.4:c.211C>T, XM_005250039.3:c.211C>T, XM_005250039.2:c.211C>T, XM_005250039.1:c.211C>T, XM_005250040.5:c.211C>T, XM_005250040.4:c.211C>T, XM_005250040.3:c.211C>T, XM_005250040.2:c.211C>T, XM_005250040.1:c.211C>T, XM_005250038.4:c.211C>T, XM_005250038.3:c.211C>T, XM_005250038.2:c.211C>T, XM_005250038.1:c.211C>T, NM_022750.4:c.211C>T, NM_022750.3:c.211C>T, NM_022750.2:c.211C>T, XR_927514.3:n.315C>T, XR_927514.2:n.1080C>T, XR_927514.1:n.1171C>T, NR_130117.2:n.315C>T, NR_130117.1:n.1085C>T, XM_047420739.1:c.211C>T, XM_047420741.1:c.211C>T, XM_047420742.1:c.211C>T, XP_005250096.1:p.Pro71Ser, XP_005250097.1:p.Pro71Ser, XP_005250095.1:p.Pro71Ser, NP_073587.1:p.Pro71Ser, XP_047276695.1:p.Pro71Ser, XP_047276697.1:p.Pro71Ser, XP_047276698.1:p.Pro71Ser

Select item 145833076212.

rs1458330762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140062670 (GRCh38)
7:139762470 (GRCh37)
Canonical SPDI:: NC_000007.14:140062669:C:T
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000007.14:g.140062670C>T, NC_000007.13:g.139762470C>T, XM_005250039.5:c.178G>A, XM_005250039.4:c.178G>A, XM_005250039.3:c.178G>A, XM_005250039.2:c.178G>A, XM_005250039.1:c.178G>A, XM_005250040.5:c.178G>A, XM_005250040.4:c.178G>A, XM_005250040.3:c.178G>A, XM_005250040.2:c.178G>A, XM_005250040.1:c.178G>A, XM_005250038.4:c.178G>A, XM_005250038.3:c.178G>A, XM_005250038.2:c.178G>A, XM_005250038.1:c.178G>A, NM_022750.4:c.178G>A, NM_022750.3:c.178G>A, NM_022750.2:c.178G>A, XR_927514.3:n.282G>A, XR_927514.2:n.1047G>A, XR_927514.1:n.1138G>A, NR_130117.2:n.282G>A, NR_130117.1:n.1052G>A, XM_047420739.1:c.178G>A, XM_047420741.1:c.178G>A, XM_047420742.1:c.178G>A, XP_005250096.1:p.Ala60Thr, XP_005250097.1:p.Ala60Thr, XP_005250095.1:p.Ala60Thr, NP_073587.1:p.Ala60Thr, XP_047276695.1:p.Ala60Thr, XP_047276697.1:p.Ala60Thr, XP_047276698.1:p.Ala60Thr

Select item 145617773313.

rs1456177733 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140041663 (GRCh38)
7:139741463 (GRCh37)
Canonical SPDI:: NC_000007.14:140041662:C:T
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000007.14:g.140041663C>T, NC_000007.13:g.139741463C>T, XM_005250039.5:c.1163G>A, XM_005250039.4:c.1163G>A, XM_005250039.3:c.1163G>A, XM_005250039.2:c.1163G>A, XM_005250039.1:c.1163G>A, XM_005250040.5:c.1163G>A, XM_005250040.4:c.1163G>A, XM_005250040.3:c.1163G>A, XM_005250040.2:c.1163G>A, XM_005250040.1:c.1163G>A, XM_005250038.4:c.1163G>A, XM_005250038.3:c.1163G>A, XM_005250038.2:c.1163G>A, XM_005250038.1:c.1163G>A, NM_022750.4:c.1163G>A, NM_022750.3:c.1163G>A, NM_022750.2:c.1163G>A, XR_927514.3:n.1267G>A, XR_927514.2:n.2032G>A, XR_927514.1:n.2123G>A, NR_130117.2:n.1267G>A, NR_130117.1:n.2037G>A, XM_047420739.1:c.1163G>A, XM_047420741.1:c.1163G>A, XM_047420742.1:c.1163G>A, XP_005250096.1:p.Trp388Ter, XP_005250097.1:p.Trp388Ter, XP_005250095.1:p.Trp388Ter, NP_073587.1:p.Trp388Ter, XP_047276695.1:p.Trp388Ter, XP_047276697.1:p.Trp388Ter, XP_047276698.1:p.Trp388Ter

Select item 145077060314.

rs1450770603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:140041745 (GRCh38)
7:139741545 (GRCh37)
Canonical SPDI:: NC_000007.14:140041744:T:G
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140041745T>G, NC_000007.13:g.139741545T>G, XM_005250039.5:c.1081A>C, XM_005250039.4:c.1081A>C, XM_005250039.3:c.1081A>C, XM_005250039.2:c.1081A>C, XM_005250039.1:c.1081A>C, XM_005250040.5:c.1081A>C, XM_005250040.4:c.1081A>C, XM_005250040.3:c.1081A>C, XM_005250040.2:c.1081A>C, XM_005250040.1:c.1081A>C, XM_005250038.4:c.1081A>C, XM_005250038.3:c.1081A>C, XM_005250038.2:c.1081A>C, XM_005250038.1:c.1081A>C, NM_022750.4:c.1081A>C, NM_022750.3:c.1081A>C, NM_022750.2:c.1081A>C, XR_927514.3:n.1185A>C, XR_927514.2:n.1950A>C, XR_927514.1:n.2041A>C, NR_130117.2:n.1185A>C, NR_130117.1:n.1955A>C, XM_047420739.1:c.1081A>C, XM_047420741.1:c.1081A>C, XM_047420742.1:c.1081A>C, XP_005250096.1:p.Thr361Pro, XP_005250097.1:p.Thr361Pro, XP_005250095.1:p.Thr361Pro, NP_073587.1:p.Thr361Pro, XP_047276695.1:p.Thr361Pro, XP_047276697.1:p.Thr361Pro, XP_047276698.1:p.Thr361Pro

Select item 145003806915.

rs1450038069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:140046890 (GRCh38)
7:139746690 (GRCh37)
Canonical SPDI:: NC_000007.14:140046889:A:G
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.140046890A>G, NC_000007.13:g.139746690A>G, XM_005250039.5:c.980T>C, XM_005250039.4:c.980T>C, XM_005250039.3:c.980T>C, XM_005250039.2:c.980T>C, XM_005250039.1:c.980T>C, XM_005250040.5:c.980T>C, XM_005250040.4:c.980T>C, XM_005250040.3:c.980T>C, XM_005250040.2:c.980T>C, XM_005250040.1:c.980T>C, XM_005250038.4:c.980T>C, XM_005250038.3:c.980T>C, XM_005250038.2:c.980T>C, XM_005250038.1:c.980T>C, NM_022750.4:c.980T>C, NM_022750.3:c.980T>C, NM_022750.2:c.980T>C, XR_927514.3:n.1084T>C, XR_927514.2:n.1849T>C, XR_927514.1:n.1940T>C, NR_130117.2:n.1084T>C, NR_130117.1:n.1854T>C, XM_047420739.1:c.980T>C, XM_047420741.1:c.980T>C, XM_047420742.1:c.980T>C, XP_005250096.1:p.Ile327Thr, XP_005250097.1:p.Ile327Thr, XP_005250095.1:p.Ile327Thr, NP_073587.1:p.Ile327Thr, XP_047276695.1:p.Ile327Thr, XP_047276697.1:p.Ile327Thr, XP_047276698.1:p.Ile327Thr

Select item 144690346816.

rs1446903468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:140062527 (GRCh38)
7:139762327 (GRCh37)
Canonical SPDI:: NC_000007.14:140062526:T:C
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.140062527T>C, NC_000007.13:g.139762327T>C, XM_005250039.5:c.321A>G, XM_005250039.4:c.321A>G, XM_005250039.3:c.321A>G, XM_005250039.2:c.321A>G, XM_005250039.1:c.321A>G, XM_005250040.5:c.321A>G, XM_005250040.4:c.321A>G, XM_005250040.3:c.321A>G, XM_005250040.2:c.321A>G, XM_005250040.1:c.321A>G, XM_005250038.4:c.321A>G, XM_005250038.3:c.321A>G, XM_005250038.2:c.321A>G, XM_005250038.1:c.321A>G, NM_022750.4:c.321A>G, NM_022750.3:c.321A>G, NM_022750.2:c.321A>G, XR_927514.3:n.425A>G, XR_927514.2:n.1190A>G, XR_927514.1:n.1281A>G, NR_130117.2:n.425A>G, NR_130117.1:n.1195A>G, XM_047420739.1:c.321A>G, XM_047420741.1:c.321A>G, XM_047420742.1:c.321A>G

Select item 144571264317.

rs1445712643 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:140062787 (GRCh38)
7:139762587 (GRCh37)
Canonical SPDI:: NC_000007.14:140062786:G:A,NC_000007.14:140062786:G:T
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.140062787G>A, NC_000007.14:g.140062787G>T, NC_000007.13:g.139762587G>A, NC_000007.13:g.139762587G>T, XM_005250039.5:c.61C>T, XM_005250039.5:c.61C>A, XM_005250039.4:c.61C>T, XM_005250039.4:c.61C>A, XM_005250039.3:c.61C>T, XM_005250039.3:c.61C>A, XM_005250039.2:c.61C>T, XM_005250039.2:c.61C>A, XM_005250039.1:c.61C>T, XM_005250039.1:c.61C>A, XM_005250040.5:c.61C>T, XM_005250040.5:c.61C>A, XM_005250040.4:c.61C>T, XM_005250040.4:c.61C>A, XM_005250040.3:c.61C>T, XM_005250040.3:c.61C>A, XM_005250040.2:c.61C>T, XM_005250040.2:c.61C>A, XM_005250040.1:c.61C>T, XM_005250040.1:c.61C>A, XM_005250038.4:c.61C>T, XM_005250038.4:c.61C>A, XM_005250038.3:c.61C>T, XM_005250038.3:c.61C>A, XM_005250038.2:c.61C>T, XM_005250038.2:c.61C>A, XM_005250038.1:c.61C>T, XM_005250038.1:c.61C>A, NM_022750.4:c.61C>T, NM_022750.4:c.61C>A, NM_022750.3:c.61C>T, NM_022750.3:c.61C>A, NM_022750.2:c.61C>T, NM_022750.2:c.61C>A, XR_927514.3:n.165C>T, XR_927514.3:n.165C>A, XR_927514.2:n.930C>T, XR_927514.2:n.930C>A, XR_927514.1:n.1021C>T, XR_927514.1:n.1021C>A, NR_130117.2:n.165C>T, NR_130117.2:n.165C>A, NR_130117.1:n.935C>T, NR_130117.1:n.935C>A, XM_047420739.1:c.61C>T, XM_047420739.1:c.61C>A, XM_047420741.1:c.61C>T, XM_047420741.1:c.61C>A, XM_047420742.1:c.61C>T, XM_047420742.1:c.61C>A, XP_005250096.1:p.Leu21Met, XP_005250097.1:p.Leu21Met, XP_005250095.1:p.Leu21Met, NP_073587.1:p.Leu21Met, XP_047276695.1:p.Leu21Met, XP_047276697.1:p.Leu21Met, XP_047276698.1:p.Leu21Met

Select item 144562083118.

rs1445620831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:140057116 (GRCh38)
7:139756916 (GRCh37)
Canonical SPDI:: NC_000007.14:140057115:C:T
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.140057116C>T, NC_000007.13:g.139756916C>T, XM_005250039.5:c.500G>A, XM_005250039.4:c.500G>A, XM_005250039.3:c.500G>A, XM_005250039.2:c.500G>A, XM_005250039.1:c.500G>A, XM_005250040.5:c.500G>A, XM_005250040.4:c.500G>A, XM_005250040.3:c.500G>A, XM_005250040.2:c.500G>A, XM_005250040.1:c.500G>A, XM_005250038.4:c.500G>A, XM_005250038.3:c.500G>A, XM_005250038.2:c.500G>A, XM_005250038.1:c.500G>A, NM_022750.4:c.500G>A, NM_022750.3:c.500G>A, NM_022750.2:c.500G>A, XR_927514.3:n.604G>A, XR_927514.2:n.1369G>A, XR_927514.1:n.1460G>A, NR_130117.2:n.604G>A, NR_130117.1:n.1374G>A, XM_047420739.1:c.500G>A, XM_047420741.1:c.500G>A, XM_047420742.1:c.500G>A, XP_005250096.1:p.Gly167Asp, XP_005250097.1:p.Gly167Asp, XP_005250095.1:p.Gly167Asp, NP_073587.1:p.Gly167Asp, XP_047276695.1:p.Gly167Asp, XP_047276697.1:p.Gly167Asp, XP_047276698.1:p.Gly167Asp

Select item 144232144519.

rs1442321445 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:140057999 (GRCh38)
7:139757799 (GRCh37)
Canonical SPDI:: NC_000007.14:140057998:T:C
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.140057999T>C, NC_000007.13:g.139757799T>C, XM_005250039.5:c.362A>G, XM_005250039.4:c.362A>G, XM_005250039.3:c.362A>G, XM_005250039.2:c.362A>G, XM_005250039.1:c.362A>G, XM_005250040.5:c.362A>G, XM_005250040.4:c.362A>G, XM_005250040.3:c.362A>G, XM_005250040.2:c.362A>G, XM_005250040.1:c.362A>G, XM_005250038.4:c.362A>G, XM_005250038.3:c.362A>G, XM_005250038.2:c.362A>G, XM_005250038.1:c.362A>G, NM_022750.4:c.362A>G, NM_022750.3:c.362A>G, NM_022750.2:c.362A>G, XR_927514.3:n.466A>G, XR_927514.2:n.1231A>G, XR_927514.1:n.1322A>G, NR_130117.2:n.466A>G, NR_130117.1:n.1236A>G, XM_047420739.1:c.362A>G, XM_047420741.1:c.362A>G, XM_047420742.1:c.362A>G, XP_005250096.1:p.Glu121Gly, XP_005250097.1:p.Glu121Gly, XP_005250095.1:p.Glu121Gly, NP_073587.1:p.Glu121Gly, XP_047276695.1:p.Glu121Gly, XP_047276697.1:p.Glu121Gly, XP_047276698.1:p.Glu121Gly

Select item 144170845920.

rs1441708459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:140062524 (GRCh38)
7:139762324 (GRCh37)
Canonical SPDI:: NC_000007.14:140062523:G:A
Gene:: PARP12 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_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_000007.14:g.140062524G>A, NC_000007.13:g.139762324G>A, XM_005250039.5:c.324C>T, XM_005250039.4:c.324C>T, XM_005250039.3:c.324C>T, XM_005250039.2:c.324C>T, XM_005250039.1:c.324C>T, XM_005250040.5:c.324C>T, XM_005250040.4:c.324C>T, XM_005250040.3:c.324C>T, XM_005250040.2:c.324C>T, XM_005250040.1:c.324C>T, XM_005250038.4:c.324C>T, XM_005250038.3:c.324C>T, XM_005250038.2:c.324C>T, XM_005250038.1:c.324C>T, NM_022750.4:c.324C>T, NM_022750.3:c.324C>T, NM_022750.2:c.324C>T, XR_927514.3:n.428C>T, XR_927514.2:n.1193C>T, XR_927514.1:n.1284C>T, NR_130117.2:n.428C>T, NR_130117.1:n.1198C>T, XM_047420739.1:c.324C>T, XM_047420741.1:c.324C>T, XM_047420742.1:c.324C>T

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