SNP Links for Nucleotide (Select 58761505) - SNP

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Links from Nucleotide

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Select item 14886459861.

rs1488645986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:17055919 (GRCh38)
19:17166729 (GRCh37)
Canonical SPDI:: NC_000019.10:17055918:G:T
Gene:: HAUS8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17055919G>T, NC_000019.9:g.17166729G>T, NM_033417.2:c.729C>A, NM_033417.1:c.729C>A, NM_001011699.1:c.726C>A

Select item 14885846852.

rs1488584685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17049981 (GRCh38)
19:17160791 (GRCh37)
Canonical SPDI:: NC_000019.10:17049980:C:T
Gene:: HAUS8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.17049981C>T, NC_000019.9:g.17160791C>T, NG_075051.1:g.263C>T, NM_033417.2:c.1125G>A, NM_033417.1:c.1125G>A, NM_001011699.1:c.1122G>A

Select item 14880040793.

rs1488004079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:17073306 (GRCh38)
19:17184116 (GRCh37)
Canonical SPDI:: NC_000019.10:17073305:C:G,NC_000019.10:17073305:C:T
Gene:: HAUS8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17073306C>G, NC_000019.10:g.17073306C>T, NC_000019.9:g.17184116C>G, NC_000019.9:g.17184116C>T, NG_013068.1:g.2526C>G, NG_013068.1:g.2526C>T, NM_033417.2:c.59G>C, NM_033417.2:c.59G>A, NM_033417.1:c.59G>C, NM_033417.1:c.59G>A, NM_001011699.1:c.59G>C, NM_001011699.1:c.59G>A, NP_219485.1:p.Ser20Thr, NP_219485.1:p.Ser20Asn, NP_001011699.1:p.Ser20Thr, NP_001011699.1:p.Ser20Asn

Select item 14870019404.

rs1487001940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:17058681 (GRCh38)
19:17169491 (GRCh37)
Canonical SPDI:: NC_000019.10:17058680:T:A,NC_000019.10:17058680:T:G
Gene:: HAUS8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17058681T>A, NC_000019.10:g.17058681T>G, NC_000019.9:g.17169491T>A, NC_000019.9:g.17169491T>G, NM_033417.2:c.513A>T, NM_033417.2:c.513A>C, NM_033417.1:c.513A>T, NM_033417.1:c.513A>C, NM_001011699.1:c.510A>T, NM_001011699.1:c.510A>C, NP_219485.1:p.Glu171Asp, NP_219485.1:p.Glu171Asp, NP_001011699.1:p.Glu170Asp, NP_001011699.1:p.Glu170Asp

Select item 14866804995.

rs1486680499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17049985 (GRCh38)
19:17160795 (GRCh37)
Canonical SPDI:: NC_000019.10:17049984:G:A
Gene:: HAUS8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.17049985G>A, NC_000019.9:g.17160795G>A, NG_075051.1:g.267G>A, NM_033417.2:c.1121C>T, NM_033417.1:c.1121C>T, NM_001011699.1:c.1118C>T, NP_219485.1:p.Ala374Val, NP_001011699.1:p.Ala373Val

Select item 14838230326.

rs1483823032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:17049874 (GRCh38)
19:17160684 (GRCh37)
Canonical SPDI:: NC_000019.10:17049873:C:G
Gene:: HAUS8 (Varview)
Functional Consequence:: stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17049874C>G, NC_000019.9:g.17160684C>G, NG_075051.1:g.156C>G, NM_033417.2:c.1232G>C, NM_033417.1:c.1232G>C, NM_001011699.1:c.1229G>C, NP_219485.1:p.Ter411Ser, NP_001011699.1:p.Ter410Ser

Select item 14811790257.

rs1481179025 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:17075407 (GRCh38)
19:17186217 (GRCh37)
Canonical SPDI:: NC_000019.10:17075406:C:A
Gene:: MYO9B (Varview), HAUS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17075407C>A, NC_000019.9:g.17186217C>A, NG_013068.1:g.4627C>A, NM_033417.2:c.16G>T, NM_033417.1:c.16G>T, NM_001011699.1:c.16G>T, NP_219485.1:p.Gly6Trp, NP_001011699.1:p.Gly6Trp

Select item 14758318138.

rs1475831813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:17059569 (GRCh38)
19:17170379 (GRCh37)
Canonical SPDI:: NC_000019.10:17059568:C:G
Gene:: HAUS8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17059569C>G, NC_000019.9:g.17170379C>G, NM_033417.2:c.408G>C, NM_033417.1:c.408G>C, NM_001011699.1:c.405G>C

Select item 14738640959.

rs1473864095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:17055925 (GRCh38)
19:17166735 (GRCh37)
Canonical SPDI:: NC_000019.10:17055924:G:T
Gene:: HAUS8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17055925G>T, NC_000019.9:g.17166735G>T, NM_033417.2:c.723C>A, NM_033417.1:c.723C>A, NM_001011699.1:c.720C>A, NP_219485.1:p.Asp241Glu, NP_001011699.1:p.Asp240Glu

Select item 147340294710.

rs1473402947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17059575 (GRCh38)
19:17170385 (GRCh37)
Canonical SPDI:: NC_000019.10:17059574:G:A
Gene:: HAUS8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.17059575G>A, NC_000019.9:g.17170385G>A, NM_033417.2:c.402C>T, NM_033417.1:c.402C>T, NM_001011699.1:c.399C>T

Select item 147216129411.

rs1472161294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:17075498 (GRCh38)
19:17186308 (GRCh37)
Canonical SPDI:: NC_000019.10:17075497:C:A
Gene:: MYO9B (Varview), HAUS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_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_000019.10:g.17075498C>A, NC_000019.9:g.17186308C>A, NG_013068.1:g.4718C>A, NM_033417.1:c.-76G>T, NM_001011699.1:c.-76G>T

Select item 146923747112.

rs1469237471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17075519 (GRCh38)
19:17186329 (GRCh37)
Canonical SPDI:: NC_000019.10:17075518:G:A
Gene:: MYO9B (Varview), HAUS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17075519G>A, NC_000019.9:g.17186329G>A, NG_013068.1:g.4739G>A, NM_033417.1:c.-97C>T, NM_001011699.1:c.-97C>T

Select item 146449909613.

rs1464499096 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:17058841 (GRCh38)
19:17169652 (GRCh37)
Canonical SPDI:: NC_000019.10:17058841:T:TT
Gene:: HAUS8 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17058842dup, NC_000019.9:g.17169652dup, NM_033417.2:c.455dup, NM_033417.1:c.455dup, NM_001011699.1:c.452dup, NP_219485.1:p.Thr153fs, NP_001011699.1:p.Thr152fs

Select item 146262488314.

rs1462624883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:17069068 (GRCh38)
19:17179878 (GRCh37)
Canonical SPDI:: NC_000019.10:17069067:G:T
Gene:: HAUS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.17069068G>T, NC_000019.9:g.17179878G>T, NM_033417.2:c.110C>A, NM_033417.1:c.110C>A, NM_001011699.1:c.110C>A, NP_219485.1:p.Ser37Tyr, NP_001011699.1:p.Ser37Tyr

Select item 146175967615.

rs1461759676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:17062776 (GRCh38)
19:17173586 (GRCh37)
Canonical SPDI:: NC_000019.10:17062775:G:C
Gene:: HAUS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17062776G>C, NC_000019.9:g.17173586G>C, NM_033417.2:c.151C>G, NM_033417.1:c.151C>G, NM_001011699.1:c.151C>G, NP_219485.1:p.Pro51Ala, NP_001011699.1:p.Pro51Ala

Select item 145999677116.

rs1459996771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:17050141 (GRCh38)
19:17160951 (GRCh37)
Canonical SPDI:: NC_000019.10:17050140:G:A
Gene:: HAUS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.17050141G>A, NC_000019.9:g.17160951G>A, NG_075051.1:g.423G>A, NM_033417.2:c.965C>T, NM_033417.1:c.965C>T, NM_001011699.1:c.962C>T, NP_219485.1:p.Ala322Val, NP_001011699.1:p.Ala321Val

Select item 145839940117.

rs1458399401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:17058702 (GRCh38)
19:17169512 (GRCh37)
Canonical SPDI:: NC_000019.10:17058701:C:G
Gene:: HAUS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.17058702C>G, NC_000019.9:g.17169512C>G, NM_033417.2:c.492G>C, NM_033417.1:c.492G>C, NM_001011699.1:c.489G>C, NP_219485.1:p.Glu164Asp, NP_001011699.1:p.Glu163Asp

Select item 145684895718.

rs1456848957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:17058651 (GRCh38)
19:17169461 (GRCh37)
Canonical SPDI:: NC_000019.10:17058650:C:T
Gene:: HAUS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000019.10:g.17058651C>T, NC_000019.9:g.17169461C>T, NM_033417.2:c.543G>A, NM_033417.1:c.543G>A, NM_001011699.1:c.540G>A, NP_219485.1:p.Met181Ile, NP_001011699.1:p.Met180Ile

Select item 145558773519.

rs1455587735 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:17062709 (GRCh38)
19:17173519 (GRCh37)
Canonical SPDI:: NC_000019.10:17062708:T:C
Gene:: HAUS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.17062709T>C, NC_000019.9:g.17173519T>C, NM_033417.2:c.218A>G, NM_033417.1:c.218A>G, NM_001011699.1:c.218A>G, NP_219485.1:p.Gln73Arg, NP_001011699.1:p.Gln73Arg

Select item 145512104420.

rs1455121044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:17075441 (GRCh38)
19:17186251 (GRCh37)
Canonical SPDI:: NC_000019.10:17075440:A:T
Gene:: MYO9B (Varview), HAUS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.17075441A>T, NC_000019.9:g.17186251A>T, NG_013068.1:g.4661A>T, NM_033417.2:c.-19T>A, NM_033417.1:c.-19T>A, NM_001011699.1:c.-19T>A

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