SNP Links for Protein (Select 767978061) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 266

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Select item 14901824381.

rs1490182438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:50945508 (GRCh38)
13:51519644 (GRCh37)
Canonical SPDI:: NC_000013.11:50945507:G:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50945508G>A, NC_000013.10:g.51519644G>A, NG_009055.1:g.40753G>A, NM_024570.4:c.592G>A, NM_024570.3:c.592G>A, NM_001142279.2:c.592G>A, NM_001411023.1:c.592G>A, XM_006719867.5:c.574G>A, XM_006719867.4:c.574G>A, XM_006719867.3:c.574G>A, XM_006719867.2:c.574G>A, XM_006719867.1:c.574G>A, XM_011535230.3:c.592G>A, XM_011535230.2:c.592G>A, XM_011535230.1:c.592G>A, XM_011535231.3:c.592G>A, XM_011535231.2:c.592G>A, XM_011535231.1:c.592G>A, XM_011535229.2:c.592G>A, XM_047430617.1:c.592G>A, XM_047430613.1:c.592G>A, XM_047430615.1:c.502G>A, XM_047430614.1:c.502G>A, XM_047430616.1:c.502G>A, XM_047430618.1:c.184G>A, NP_078846.2:p.Asp198Asn, NP_001135751.1:p.Asp198Asn, XP_006719930.1:p.Asp192Asn, XP_011533532.1:p.Asp198Asn, XP_011533533.1:p.Asp198Asn, XP_011533531.1:p.Asp198Asn, XP_047286573.1:p.Asp198Asn, XP_047286569.1:p.Asp198Asn, XP_047286571.1:p.Asp168Asn, XP_047286570.1:p.Asp168Asn, XP_047286572.1:p.Asp168Asn, XP_047286574.1:p.Asp62Asn

Select item 14901339632.

rs1490133963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50943383 (GRCh38)
13:51517519 (GRCh37)
Canonical SPDI:: NC_000013.11:50943382:C:T
Gene:: RNASEH2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50943383C>T, NC_000013.10:g.51517519C>T, NG_009055.1:g.38628C>T, NM_024570.4:c.499C>T, NM_024570.3:c.499C>T, NM_001142279.2:c.499C>T, NM_001411023.1:c.499C>T, XM_006719867.5:c.481C>T, XM_006719867.4:c.481C>T, XM_006719867.3:c.481C>T, XM_006719867.2:c.481C>T, XM_006719867.1:c.481C>T, XM_011535230.3:c.499C>T, XM_011535230.2:c.499C>T, XM_011535230.1:c.499C>T, XM_011535231.3:c.499C>T, XM_011535231.2:c.499C>T, XM_011535231.1:c.499C>T, XM_011535229.2:c.499C>T, XM_047430617.1:c.499C>T, XM_047430613.1:c.499C>T, XM_047430615.1:c.409C>T, XM_047430614.1:c.409C>T, XM_047430616.1:c.409C>T, XM_047430618.1:c.91C>T

Select item 14890620023.

rs1489062002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:50929537 (GRCh38)
13:51503673 (GRCh37)
Canonical SPDI:: NC_000013.11:50929536:A:C
Gene:: RNASEH2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_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)
C=0.000142/2 (TOMMO)
HGVS:: NC_000013.11:g.50929537A>C, NC_000013.10:g.51503673A>C, NG_009055.1:g.24782A>C, NM_024570.4:c.199A>C, NM_024570.3:c.199A>C, NM_001142279.2:c.199A>C, NM_001411023.1:c.199A>C, XM_006719867.5:c.181A>C, XM_006719867.4:c.181A>C, XM_006719867.3:c.181A>C, XM_006719867.2:c.181A>C, XM_006719867.1:c.181A>C, XM_011535230.3:c.199A>C, XM_011535230.2:c.199A>C, XM_011535230.1:c.199A>C, XM_011535231.3:c.199A>C, XM_011535231.2:c.199A>C, XM_011535231.1:c.199A>C, XM_011535229.2:c.199A>C, XM_047430617.1:c.199A>C, XM_047430613.1:c.199A>C, XM_047430615.1:c.109A>C, XM_047430614.1:c.109A>C, XM_047430616.1:c.109A>C, NP_078846.2:p.Lys67Gln, NP_001135751.1:p.Lys67Gln, XP_006719930.1:p.Lys61Gln, XP_011533532.1:p.Lys67Gln, XP_011533533.1:p.Lys67Gln, XP_011533531.1:p.Lys67Gln, XP_047286573.1:p.Lys67Gln, XP_047286569.1:p.Lys67Gln, XP_047286571.1:p.Lys37Gln, XP_047286570.1:p.Lys37Gln, XP_047286572.1:p.Lys37Gln

Select item 14831026784.

rs1483102678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:50945484 (GRCh38)
13:51519620 (GRCh37)
Canonical SPDI:: NC_000013.11:50945483:C:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.50945484C>G, NC_000013.10:g.51519620C>G, NG_009055.1:g.40729C>G, NM_024570.4:c.568C>G, NM_024570.3:c.568C>G, NM_001142279.2:c.568C>G, NM_001411023.1:c.568C>G, XM_006719867.5:c.550C>G, XM_006719867.4:c.550C>G, XM_006719867.3:c.550C>G, XM_006719867.2:c.550C>G, XM_006719867.1:c.550C>G, XM_011535230.3:c.568C>G, XM_011535230.2:c.568C>G, XM_011535230.1:c.568C>G, XM_011535231.3:c.568C>G, XM_011535231.2:c.568C>G, XM_011535231.1:c.568C>G, XM_011535229.2:c.568C>G, XM_047430617.1:c.568C>G, XM_047430613.1:c.568C>G, XM_047430615.1:c.478C>G, XM_047430614.1:c.478C>G, XM_047430616.1:c.478C>G, XM_047430618.1:c.160C>G, NP_078846.2:p.Gln190Glu, NP_001135751.1:p.Gln190Glu, XP_006719930.1:p.Gln184Glu, XP_011533532.1:p.Gln190Glu, XP_011533533.1:p.Gln190Glu, XP_011533531.1:p.Gln190Glu, XP_047286573.1:p.Gln190Glu, XP_047286569.1:p.Gln190Glu, XP_047286571.1:p.Gln160Glu, XP_047286570.1:p.Gln160Glu, XP_047286572.1:p.Gln160Glu, XP_047286574.1:p.Gln54Glu

Select item 14801745645.

rs1480174564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:50934964 (GRCh38)
13:51509100 (GRCh37)
Canonical SPDI:: NC_000013.11:50934963:T:C
Gene:: RNASEH2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.50934964T>C, NC_000013.10:g.51509100T>C, NG_009055.1:g.30209T>C, NM_024570.4:c.401T>C, NM_024570.3:c.401T>C, NM_001142279.2:c.401T>C, NM_001411023.1:c.401T>C, XM_006719867.5:c.383T>C, XM_006719867.4:c.383T>C, XM_006719867.3:c.383T>C, XM_006719867.2:c.383T>C, XM_006719867.1:c.383T>C, XM_011535230.3:c.401T>C, XM_011535230.2:c.401T>C, XM_011535230.1:c.401T>C, XM_011535231.3:c.401T>C, XM_011535231.2:c.401T>C, XM_011535231.1:c.401T>C, XM_011535229.2:c.401T>C, XM_047430617.1:c.401T>C, XM_047430613.1:c.401T>C, XM_047430615.1:c.311T>C, XM_047430614.1:c.311T>C, XM_047430616.1:c.311T>C, NP_078846.2:p.Leu134Pro, NP_001135751.1:p.Leu134Pro, XP_006719930.1:p.Leu128Pro, XP_011533532.1:p.Leu134Pro, XP_011533533.1:p.Leu134Pro, XP_011533531.1:p.Leu134Pro, XP_047286573.1:p.Leu134Pro, XP_047286569.1:p.Leu134Pro, XP_047286571.1:p.Leu104Pro, XP_047286570.1:p.Leu104Pro, XP_047286572.1:p.Leu104Pro

Select item 14757247026.

rs1475724702 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50943393 (GRCh38)
13:51517529 (GRCh37)
Canonical SPDI:: NC_000013.11:50943392:A:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50943393A>G, NC_000013.10:g.51517529A>G, NG_009055.1:g.38638A>G, NM_024570.4:c.509A>G, NM_024570.3:c.509A>G, NM_001142279.2:c.509A>G, NM_001411023.1:c.509A>G, XM_006719867.5:c.491A>G, XM_006719867.4:c.491A>G, XM_006719867.3:c.491A>G, XM_006719867.2:c.491A>G, XM_006719867.1:c.491A>G, XM_011535230.3:c.509A>G, XM_011535230.2:c.509A>G, XM_011535230.1:c.509A>G, XM_011535231.3:c.509A>G, XM_011535231.2:c.509A>G, XM_011535231.1:c.509A>G, XM_011535229.2:c.509A>G, XM_047430617.1:c.509A>G, XM_047430613.1:c.509A>G, XM_047430615.1:c.419A>G, XM_047430614.1:c.419A>G, XM_047430616.1:c.419A>G, XM_047430618.1:c.101A>G, NP_078846.2:p.Lys170Arg, NP_001135751.1:p.Lys170Arg, XP_006719930.1:p.Lys164Arg, XP_011533532.1:p.Lys170Arg, XP_011533533.1:p.Lys170Arg, XP_011533531.1:p.Lys170Arg, XP_047286573.1:p.Lys170Arg, XP_047286569.1:p.Lys170Arg, XP_047286571.1:p.Lys140Arg, XP_047286570.1:p.Lys140Arg, XP_047286572.1:p.Lys140Arg, XP_047286574.1:p.Lys34Arg

Select item 14700366467.

rs1470036646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50929561 (GRCh38)
13:51503697 (GRCh37)
Canonical SPDI:: NC_000013.11:50929560:A:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.50929561A>G, NC_000013.10:g.51503697A>G, NG_009055.1:g.24806A>G, NM_024570.4:c.223A>G, NM_024570.3:c.223A>G, NM_001142279.2:c.223A>G, NM_001411023.1:c.223A>G, XM_006719867.5:c.205A>G, XM_006719867.4:c.205A>G, XM_006719867.3:c.205A>G, XM_006719867.2:c.205A>G, XM_006719867.1:c.205A>G, XM_011535230.3:c.223A>G, XM_011535230.2:c.223A>G, XM_011535230.1:c.223A>G, XM_011535231.3:c.223A>G, XM_011535231.2:c.223A>G, XM_011535231.1:c.223A>G, XM_011535229.2:c.223A>G, XM_047430617.1:c.223A>G, XM_047430613.1:c.223A>G, XM_047430615.1:c.133A>G, XM_047430614.1:c.133A>G, XM_047430616.1:c.133A>G, NP_078846.2:p.Ile75Val, NP_001135751.1:p.Ile75Val, XP_006719930.1:p.Ile69Val, XP_011533532.1:p.Ile75Val, XP_011533533.1:p.Ile75Val, XP_011533531.1:p.Ile75Val, XP_047286573.1:p.Ile75Val, XP_047286569.1:p.Ile75Val, XP_047286571.1:p.Ile45Val, XP_047286570.1:p.Ile45Val, XP_047286572.1:p.Ile45Val

Select item 14699753188.

rs1469975318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50945520 (GRCh38)
13:51519656 (GRCh37)
Canonical SPDI:: NC_000013.11:50945519:A:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50945520A>G, NC_000013.10:g.51519656A>G, NG_009055.1:g.40765A>G, NM_024570.4:c.604A>G, NM_024570.3:c.604A>G, NM_001142279.2:c.604A>G, NM_001411023.1:c.604A>G, XM_006719867.5:c.586A>G, XM_006719867.4:c.586A>G, XM_006719867.3:c.586A>G, XM_006719867.2:c.586A>G, XM_006719867.1:c.586A>G, XM_011535230.3:c.604A>G, XM_011535230.2:c.604A>G, XM_011535230.1:c.604A>G, XM_011535231.3:c.604A>G, XM_011535231.2:c.604A>G, XM_011535231.1:c.604A>G, XM_011535229.2:c.604A>G, XM_047430617.1:c.604A>G, XM_047430613.1:c.604A>G, XM_047430615.1:c.514A>G, XM_047430614.1:c.514A>G, XM_047430616.1:c.514A>G, XM_047430618.1:c.196A>G, NP_078846.2:p.Thr202Ala, NP_001135751.1:p.Thr202Ala, XP_006719930.1:p.Thr196Ala, XP_011533532.1:p.Thr202Ala, XP_011533533.1:p.Thr202Ala, XP_011533531.1:p.Thr202Ala, XP_047286573.1:p.Thr202Ala, XP_047286569.1:p.Thr202Ala, XP_047286571.1:p.Thr172Ala, XP_047286570.1:p.Thr172Ala, XP_047286572.1:p.Thr172Ala, XP_047286574.1:p.Thr66Ala

Select item 14691763189.

rs1469176318 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 13:50927418 (GRCh38)
13:51501554 (GRCh37)
Canonical SPDI:: NC_000013.11:50927417:G:
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50927418del, NC_000013.10:g.51501554del, NG_009055.1:g.22663del, NM_024570.4:c.76del, NM_024570.3:c.76del, NM_001142279.2:c.76del, NM_001411023.1:c.76del, XM_006719867.5:c.58del, XM_006719867.4:c.58del, XM_006719867.3:c.58del, XM_006719867.2:c.58del, XM_006719867.1:c.58del, XM_011535230.3:c.76del, XM_011535230.2:c.76del, XM_011535230.1:c.76del, XM_011535231.3:c.76del, XM_011535231.2:c.76del, XM_011535231.1:c.76del, XM_011535229.2:c.76del, XM_047430617.1:c.76del, XM_047430613.1:c.76del, XM_047430615.1:c.-15del, XM_047430614.1:c.-15del, XM_047430616.1:c.-15del, NP_078846.2:p.Asp26fs, NP_001135751.1:p.Asp26fs, XP_006719930.1:p.Asp20fs, XP_011533532.1:p.Asp26fs, XP_011533533.1:p.Asp26fs, XP_011533531.1:p.Asp26fs, XP_047286573.1:p.Asp26fs, XP_047286569.1:p.Asp26fs

Select item 146768452410.

rs1467684524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50930738 (GRCh38)
13:51504874 (GRCh37)
Canonical SPDI:: NC_000013.11:50930737:C:T
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.50930738C>T, NC_000013.10:g.51504874C>T, NG_009055.1:g.25983C>T, NM_024570.4:c.300C>T, NM_024570.3:c.300C>T, NM_001142279.2:c.300C>T, NM_001411023.1:c.300C>T, XM_006719867.5:c.282C>T, XM_006719867.4:c.282C>T, XM_006719867.3:c.282C>T, XM_006719867.2:c.282C>T, XM_006719867.1:c.282C>T, XM_011535230.3:c.300C>T, XM_011535230.2:c.300C>T, XM_011535230.1:c.300C>T, XM_011535231.3:c.300C>T, XM_011535231.2:c.300C>T, XM_011535231.1:c.300C>T, XM_011535229.2:c.300C>T, XM_047430617.1:c.300C>T, XM_047430613.1:c.300C>T, XM_047430615.1:c.210C>T, XM_047430614.1:c.210C>T, XM_047430616.1:c.210C>T

Select item 146078015411.

rs1460780154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:50943337 (GRCh38)
13:51517473 (GRCh37)
Canonical SPDI:: NC_000013.11:50943336:C:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.50943337C>A, NC_000013.10:g.51517473C>A, NG_009055.1:g.38582C>A, NM_024570.4:c.453C>A, NM_024570.3:c.453C>A, NM_001142279.2:c.453C>A, NM_001411023.1:c.453C>A, XM_006719867.5:c.435C>A, XM_006719867.4:c.435C>A, XM_006719867.3:c.435C>A, XM_006719867.2:c.435C>A, XM_006719867.1:c.435C>A, XM_011535230.3:c.453C>A, XM_011535230.2:c.453C>A, XM_011535230.1:c.453C>A, XM_011535231.3:c.453C>A, XM_011535231.2:c.453C>A, XM_011535231.1:c.453C>A, XM_011535229.2:c.453C>A, XM_047430617.1:c.453C>A, XM_047430613.1:c.453C>A, XM_047430615.1:c.363C>A, XM_047430614.1:c.363C>A, XM_047430616.1:c.363C>A, XM_047430618.1:c.45C>A, NP_078846.2:p.Asp151Glu, NP_001135751.1:p.Asp151Glu, XP_006719930.1:p.Asp145Glu, XP_011533532.1:p.Asp151Glu, XP_011533533.1:p.Asp151Glu, XP_011533531.1:p.Asp151Glu, XP_047286573.1:p.Asp151Glu, XP_047286569.1:p.Asp151Glu, XP_047286571.1:p.Asp121Glu, XP_047286570.1:p.Asp121Glu, XP_047286572.1:p.Asp121Glu, XP_047286574.1:p.Asp15Glu

Select item 145840747612.

rs1458407476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:50929507 (GRCh38)
13:51503643 (GRCh37)
Canonical SPDI:: NC_000013.11:50929506:C:A
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50929507C>A, NC_000013.10:g.51503643C>A, NG_009055.1:g.24752C>A, NM_024570.4:c.169C>A, NM_024570.3:c.169C>A, NM_001142279.2:c.169C>A, NM_001411023.1:c.169C>A, XM_006719867.5:c.151C>A, XM_006719867.4:c.151C>A, XM_006719867.3:c.151C>A, XM_006719867.2:c.151C>A, XM_006719867.1:c.151C>A, XM_011535230.3:c.169C>A, XM_011535230.2:c.169C>A, XM_011535230.1:c.169C>A, XM_011535231.3:c.169C>A, XM_011535231.2:c.169C>A, XM_011535231.1:c.169C>A, XM_011535229.2:c.169C>A, XM_047430617.1:c.169C>A, XM_047430613.1:c.169C>A, XM_047430615.1:c.79C>A, XM_047430614.1:c.79C>A, XM_047430616.1:c.79C>A, NP_078846.2:p.Leu57Ile, NP_001135751.1:p.Leu57Ile, XP_006719930.1:p.Leu51Ile, XP_011533532.1:p.Leu57Ile, XP_011533533.1:p.Leu57Ile, XP_011533531.1:p.Leu57Ile, XP_047286573.1:p.Leu57Ile, XP_047286569.1:p.Leu57Ile, XP_047286571.1:p.Leu27Ile, XP_047286570.1:p.Leu27Ile, XP_047286572.1:p.Leu27Ile

Select item 145823458413.

rs1458234584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:50927453 (GRCh38)
13:51501589 (GRCh37)
Canonical SPDI:: NC_000013.11:50927452:T:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50927453T>G, NC_000013.10:g.51501589T>G, NG_009055.1:g.22698T>G, NM_024570.4:c.111T>G, NM_024570.3:c.111T>G, NM_001142279.2:c.111T>G, NM_001411023.1:c.111T>G, XM_006719867.5:c.93T>G, XM_006719867.4:c.93T>G, XM_006719867.3:c.93T>G, XM_006719867.2:c.93T>G, XM_006719867.1:c.93T>G, XM_011535230.3:c.111T>G, XM_011535230.2:c.111T>G, XM_011535230.1:c.111T>G, XM_011535231.3:c.111T>G, XM_011535231.2:c.111T>G, XM_011535231.1:c.111T>G, XM_011535229.2:c.111T>G, XM_047430617.1:c.111T>G, XM_047430613.1:c.111T>G, XM_047430615.1:c.21T>G, XM_047430614.1:c.21T>G, XM_047430616.1:c.21T>G, NP_078846.2:p.Phe37Leu, NP_001135751.1:p.Phe37Leu, XP_006719930.1:p.Phe31Leu, XP_011533532.1:p.Phe37Leu, XP_011533533.1:p.Phe37Leu, XP_011533531.1:p.Phe37Leu, XP_047286573.1:p.Phe37Leu, XP_047286569.1:p.Phe37Leu, XP_047286571.1:p.Phe7Leu, XP_047286570.1:p.Phe7Leu, XP_047286572.1:p.Phe7Leu

Select item 145517526814.

rs1455175268 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:50934910 (GRCh38)
13:51509046 (GRCh37)
Canonical SPDI:: NC_000013.11:50934909:T:C
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_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)
HGVS:: NC_000013.11:g.50934910T>C, NC_000013.10:g.51509046T>C, NG_009055.1:g.30155T>C, NM_024570.4:c.347T>C, NM_024570.3:c.347T>C, NM_001142279.2:c.347T>C, NM_001411023.1:c.347T>C, XM_006719867.5:c.329T>C, XM_006719867.4:c.329T>C, XM_006719867.3:c.329T>C, XM_006719867.2:c.329T>C, XM_006719867.1:c.329T>C, XM_011535230.3:c.347T>C, XM_011535230.2:c.347T>C, XM_011535230.1:c.347T>C, XM_011535231.3:c.347T>C, XM_011535231.2:c.347T>C, XM_011535231.1:c.347T>C, XM_011535229.2:c.347T>C, XM_047430617.1:c.347T>C, XM_047430613.1:c.347T>C, XM_047430615.1:c.257T>C, XM_047430614.1:c.257T>C, XM_047430616.1:c.257T>C, NP_078846.2:p.Val116Ala, NP_001135751.1:p.Val116Ala, XP_006719930.1:p.Val110Ala, XP_011533532.1:p.Val116Ala, XP_011533533.1:p.Val116Ala, XP_011533531.1:p.Val116Ala, XP_047286573.1:p.Val116Ala, XP_047286569.1:p.Val116Ala, XP_047286571.1:p.Val86Ala, XP_047286570.1:p.Val86Ala, XP_047286572.1:p.Val86Ala

Select item 145408695415.

rs1454086954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50949480 (GRCh38)
13:51523616 (GRCh37)
Canonical SPDI:: NC_000013.11:50949479:C:T
Gene:: RNASEH2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.50949480C>T, NC_000013.10:g.51523616C>T, NG_009055.1:g.44725C>T, NM_024570.4:c.716C>T, NM_024570.3:c.716C>T, NM_001142279.2:c.716C>T, NM_001411023.1:c.716C>T, XM_006719867.5:c.698C>T, XM_006719867.4:c.698C>T, XM_006719867.3:c.698C>T, XM_006719867.2:c.698C>T, XM_006719867.1:c.698C>T, XM_011535230.3:c.716C>T, XM_011535230.2:c.716C>T, XM_011535230.1:c.716C>T, XM_011535231.3:c.716C>T, XM_011535231.2:c.716C>T, XM_011535231.1:c.716C>T, XM_011535229.2:c.716C>T, XM_047430617.1:c.716C>T, XM_047430613.1:c.716C>T, XM_047430615.1:c.626C>T, XM_047430614.1:c.626C>T, XM_047430616.1:c.626C>T, XM_047430618.1:c.308C>T, NP_078846.2:p.Ala239Val, NP_001135751.1:p.Ala239Val, XP_006719930.1:p.Ala233Val, XP_011533532.1:p.Ala239Val, XP_011533533.1:p.Ala239Val, XP_011533531.1:p.Ala239Val, XP_047286573.1:p.Ala239Val, XP_047286569.1:p.Ala239Val, XP_047286571.1:p.Ala209Val, XP_047286570.1:p.Ala209Val, XP_047286572.1:p.Ala209Val, XP_047286574.1:p.Ala103Val

Select item 145404701316.

rs1454047013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50929569 (GRCh38)
13:51503705 (GRCh37)
Canonical SPDI:: NC_000013.11:50929568:A:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.50929569A>G, NC_000013.10:g.51503705A>G, NG_009055.1:g.24814A>G, NM_024570.4:c.231A>G, NM_024570.3:c.231A>G, NM_001142279.2:c.231A>G, NM_001411023.1:c.231A>G, XM_006719867.5:c.213A>G, XM_006719867.4:c.213A>G, XM_006719867.3:c.213A>G, XM_006719867.2:c.213A>G, XM_006719867.1:c.213A>G, XM_011535230.3:c.231A>G, XM_011535230.2:c.231A>G, XM_011535230.1:c.231A>G, XM_011535231.3:c.231A>G, XM_011535231.2:c.231A>G, XM_011535231.1:c.231A>G, XM_011535229.2:c.231A>G, XM_047430617.1:c.231A>G, XM_047430613.1:c.231A>G, XM_047430615.1:c.141A>G, XM_047430614.1:c.141A>G, XM_047430616.1:c.141A>G

Select item 145356261617.

rs1453562616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50950035 (GRCh38)
13:51524171 (GRCh37)
Canonical SPDI:: NC_000013.11:50950034:C:T
Gene:: RNASEH2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.50950035C>T, NC_000013.10:g.51524171C>T, NG_009055.1:g.45280C>T, XM_011535230.3:c.751C>T, XM_011535230.2:c.751C>T, XM_011535230.1:c.751C>T, XP_011533532.1:p.His251Tyr

Select item 145344403118.

rs1453444031 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:50945467 (GRCh38)
13:51519603 (GRCh37)
Canonical SPDI:: NC_000013.11:50945466:A:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50945467A>G, NC_000013.10:g.51519603A>G, NG_009055.1:g.40712A>G, NM_024570.4:c.551A>G, NM_024570.3:c.551A>G, NM_001142279.2:c.551A>G, NM_001411023.1:c.551A>G, XM_006719867.5:c.533A>G, XM_006719867.4:c.533A>G, XM_006719867.3:c.533A>G, XM_006719867.2:c.533A>G, XM_006719867.1:c.533A>G, XM_011535230.3:c.551A>G, XM_011535230.2:c.551A>G, XM_011535230.1:c.551A>G, XM_011535231.3:c.551A>G, XM_011535231.2:c.551A>G, XM_011535231.1:c.551A>G, XM_011535229.2:c.551A>G, XM_047430617.1:c.551A>G, XM_047430613.1:c.551A>G, XM_047430615.1:c.461A>G, XM_047430614.1:c.461A>G, XM_047430616.1:c.461A>G, XM_047430618.1:c.143A>G, NP_078846.2:p.Asn184Ser, NP_001135751.1:p.Asn184Ser, XP_006719930.1:p.Asn178Ser, XP_011533532.1:p.Asn184Ser, XP_011533533.1:p.Asn184Ser, XP_011533531.1:p.Asn184Ser, XP_047286573.1:p.Asn184Ser, XP_047286569.1:p.Asn184Ser, XP_047286571.1:p.Asn154Ser, XP_047286570.1:p.Asn154Ser, XP_047286572.1:p.Asn154Ser, XP_047286574.1:p.Asn48Ser

Select item 145245128319.

rs1452451283 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 13:50927462 (GRCh38)
13:51501598 (GRCh37)
Canonical SPDI:: NC_000013.11:50927461:GG:G
Gene:: RNASEH2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: GG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.50927463del, NC_000013.10:g.51501599del, NG_009055.1:g.22708del, NM_024570.4:c.121del, NM_024570.3:c.121del, NM_001142279.2:c.121del, NM_001411023.1:c.121del, XM_006719867.5:c.103del, XM_006719867.4:c.103del, XM_006719867.3:c.103del, XM_006719867.2:c.103del, XM_006719867.1:c.103del, XM_011535230.3:c.121del, XM_011535230.2:c.121del, XM_011535230.1:c.121del, XM_011535231.3:c.121del, XM_011535231.2:c.121del, XM_011535231.1:c.121del, XM_011535229.2:c.121del, XM_047430617.1:c.121del, XM_047430613.1:c.121del, XM_047430615.1:c.31del, XM_047430614.1:c.31del, XM_047430616.1:c.31del, NP_078846.2:p.Val41fs, NP_001135751.1:p.Val41fs, XP_006719930.1:p.Val35fs, XP_011533532.1:p.Val41fs, XP_011533533.1:p.Val41fs, XP_011533531.1:p.Val41fs, XP_047286573.1:p.Val41fs, XP_047286569.1:p.Val41fs, XP_047286571.1:p.Val11fs, XP_047286570.1:p.Val11fs, XP_047286572.1:p.Val11fs

Select item 144782952920.

rs1447829529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:50948027 (GRCh38)
13:51522163 (GRCh37)
Canonical SPDI:: NC_000013.11:50948026:C:T
Gene:: RNASEH2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.50948027C>T, NC_000013.10:g.51522163C>T, NG_009055.1:g.43272C>T, NM_024570.4:c.657C>T, NM_024570.3:c.657C>T, NM_001142279.2:c.657C>T, NM_001411023.1:c.657C>T, XM_006719867.5:c.639C>T, XM_006719867.4:c.639C>T, XM_006719867.3:c.639C>T, XM_006719867.2:c.639C>T, XM_006719867.1:c.639C>T, XM_011535230.3:c.657C>T, XM_011535230.2:c.657C>T, XM_011535230.1:c.657C>T, XM_011535231.3:c.657C>T, XM_011535231.2:c.657C>T, XM_011535231.1:c.657C>T, XM_011535229.2:c.657C>T, XM_047430617.1:c.657C>T, XM_047430613.1:c.657C>T, XM_047430615.1:c.567C>T, XM_047430614.1:c.567C>T, XM_047430616.1:c.567C>T, XM_047430618.1:c.249C>T

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