SNP Links for Nucleotide (Select 156105694) - SNP

Links from Nucleotide

Items: 1 to 20 of 3138

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Select item 14904252411.

rs1490425241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:63559254 (GRCh38)
20:62190607 (GRCh37)
Canonical SPDI:: NC_000020.11:63559253:G:A,NC_000020.11:63559253:G:C,NC_000020.11:63559253:G:T
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63559254G>A, NC_000020.11:g.63559254G>C, NC_000020.11:g.63559254G>T, NC_000020.10:g.62190607G>A, NC_000020.10:g.62190607G>C, NC_000020.10:g.62190607G>T, NM_033405.3:c.6235C>T, NM_033405.3:c.6235C>G, NM_033405.3:c.6235C>A, NM_001037335.2:c.7942C>T, NM_001037335.2:c.7942C>G, NM_001037335.2:c.7942C>A, XM_024452006.2:c.8026C>T, XM_024452006.2:c.8026C>G, XM_024452006.2:c.8026C>A, XM_024452006.1:c.8026C>T, XM_024452006.1:c.8026C>G, XM_024452006.1:c.8026C>A, NP_208384.3:p.Pro2079Ser, NP_208384.3:p.Pro2079Ala, NP_208384.3:p.Pro2079Thr, NP_001032412.2:p.Pro2648Ser, NP_001032412.2:p.Pro2648Ala, NP_001032412.2:p.Pro2648Thr, XP_024307774.1:p.Pro2676Ser, XP_024307774.1:p.Pro2676Ala, XP_024307774.1:p.Pro2676Thr

Select item 14904006342.

rs1490400634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63560199 (GRCh38)
20:62191552 (GRCh37)
Canonical SPDI:: NC_000020.11:63560198:C:T
Gene:: HELZ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63560199C>T, NC_000020.10:g.62191552C>T, NM_033405.3:c.5922G>A, NM_001037335.2:c.7629G>A, XM_024452006.2:c.7713G>A, XM_024452006.1:c.7713G>A

Select item 14903900893.

rs1490390089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 20:63565018 (GRCh38)
20:62196371 (GRCh37)
Canonical SPDI:: NC_000020.11:63565017:T:A,NC_000020.11:63565017:T:C
Gene:: HELZ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63565018T>A, NC_000020.11:g.63565018T>C, NC_000020.10:g.62196371T>A, NC_000020.10:g.62196371T>C, NM_033405.3:c.2097A>T, NM_033405.3:c.2097A>G, NM_001037335.2:c.3804A>T, NM_001037335.2:c.3804A>G, XM_024452006.2:c.3804A>T, XM_024452006.2:c.3804A>G, XM_024452006.1:c.3804A>T, XM_024452006.1:c.3804A>G, NP_208384.3:p.Gln699His, NP_001032412.2:p.Gln1268His, XP_024307774.1:p.Gln1268His

Select item 14900336564.

rs1490033656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:63564613 (GRCh38)
20:62195966 (GRCh37)
Canonical SPDI:: NC_000020.11:63564612:T:A
Gene:: HELZ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.63564613T>A, NC_000020.10:g.62195966T>A, NM_033405.3:c.2502A>T, NM_001037335.2:c.4209A>T, XM_024452006.2:c.4209A>T, XM_024452006.1:c.4209A>T

Select item 14899029595.

rs1489902959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63565300 (GRCh38)
20:62196653 (GRCh37)
Canonical SPDI:: NC_000020.11:63565299:C:T
Gene:: HELZ2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63565300C>T, NC_000020.10:g.62196653C>T, NM_033405.3:c.1815G>A, NM_001037335.2:c.3522G>A, XM_024452006.2:c.3522G>A, XM_024452006.1:c.3522G>A

Select item 14896010766.

rs1489601076 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63564896 (GRCh38)
20:62196249 (GRCh37)
Canonical SPDI:: NC_000020.11:63564895:G:A
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63564896G>A, NC_000020.10:g.62196249G>A, NM_033405.3:c.2219C>T, NM_001037335.2:c.3926C>T, XM_024452006.2:c.3926C>T, XM_024452006.1:c.3926C>T, NP_208384.3:p.Pro740Leu, NP_001032412.2:p.Pro1309Leu, XP_024307774.1:p.Pro1309Leu

Select item 14894080157.

rs1489408015 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:63561212 (GRCh38)
20:62192565 (GRCh37)
Canonical SPDI:: NC_000020.11:63561211:C:A
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63561212C>A, NC_000020.10:g.62192565C>A, NM_033405.3:c.5309G>T, NM_001037335.2:c.7016G>T, XM_024452006.2:c.7100G>T, XM_024452006.1:c.7100G>T, NP_208384.3:p.Cys1770Phe, NP_001032412.2:p.Cys2339Phe, XP_024307774.1:p.Cys2367Phe

Select item 14883791078.

rs1488379107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63565480 (GRCh38)
20:62196833 (GRCh37)
Canonical SPDI:: NC_000020.11:63565479:G:A
Gene:: HELZ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000020.11:g.63565480G>A, NC_000020.10:g.62196833G>A, NM_033405.3:c.1635C>T, NM_001037335.2:c.3342C>T, XM_024452006.2:c.3342C>T, XM_024452006.1:c.3342C>T

Select item 14880525869.

rs1488052586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63565710 (GRCh38)
20:62197063 (GRCh37)
Canonical SPDI:: NC_000020.11:63565709:C:T
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.63565710C>T, NC_000020.10:g.62197063C>T, NM_033405.3:c.1405G>A, NM_001037335.2:c.3112G>A, XM_024452006.2:c.3112G>A, XM_024452006.1:c.3112G>A, NP_208384.3:p.Ala469Thr, NP_001032412.2:p.Ala1038Thr, XP_024307774.1:p.Ala1038Thr

Select item 148791407010.

rs1487914070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63565074 (GRCh38)
20:62196427 (GRCh37)
Canonical SPDI:: NC_000020.11:63565073:C:T
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63565074C>T, NC_000020.10:g.62196427C>T, NM_033405.3:c.2041G>A, NM_001037335.2:c.3748G>A, XM_024452006.2:c.3748G>A, XM_024452006.1:c.3748G>A, NP_208384.3:p.Val681Met, NP_001032412.2:p.Val1250Met, XP_024307774.1:p.Val1250Met

Select item 148769154811.

rs1487691548 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63566171 (GRCh38)
20:62197524 (GRCh37)
Canonical SPDI:: NC_000020.11:63566170:G:A
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63566171G>A, NC_000020.10:g.62197524G>A, NM_033405.3:c.944C>T, NM_001037335.2:c.2651C>T, XM_024452006.2:c.2651C>T, XM_024452006.1:c.2651C>T, NP_208384.3:p.Pro315Leu, NP_001032412.2:p.Pro884Leu, XP_024307774.1:p.Pro884Leu

Select item 148645612912.

rs1486456129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:63558567 (GRCh38)
20:62189920 (GRCh37)
Canonical SPDI:: NC_000020.11:63558566:C:A,NC_000020.11:63558566:C:G
Gene:: HELZ2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.63558567C>A, NC_000020.11:g.63558567C>G, NC_000020.10:g.62189920C>A, NC_000020.10:g.62189920C>G, NM_033405.3:c.*679G>T, NM_033405.3:c.*679G>C, NM_001037335.2:c.*679G>T, NM_001037335.2:c.*679G>C, XM_024452006.2:c.*679G>T, XM_024452006.2:c.*679G>C, XM_024452006.1:c.*679G>T, XM_024452006.1:c.*679G>C

Select item 148635450413.

rs1486354504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63565476 (GRCh38)
20:62196829 (GRCh37)
Canonical SPDI:: NC_000020.11:63565475:C:T
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.63565476C>T, NC_000020.10:g.62196829C>T, NM_033405.3:c.1639G>A, NM_001037335.2:c.3346G>A, XM_024452006.2:c.3346G>A, XM_024452006.1:c.3346G>A, NP_208384.3:p.Ala547Thr, NP_001032412.2:p.Ala1116Thr, XP_024307774.1:p.Ala1116Thr

Select item 148594686914.

rs1485946869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:63564554 (GRCh38)
20:62195907 (GRCh37)
Canonical SPDI:: NC_000020.11:63564553:T:A
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.63564554T>A, NC_000020.10:g.62195907T>A, NM_033405.3:c.2561A>T, NM_001037335.2:c.4268A>T, XM_024452006.2:c.4268A>T, XM_024452006.1:c.4268A>T, NP_208384.3:p.Asp854Val, NP_001032412.2:p.Asp1423Val, XP_024307774.1:p.Asp1423Val

Select item 148584261615.

rs1485842616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:63562196 (GRCh38)
20:62193549 (GRCh37)
Canonical SPDI:: NC_000020.11:63562195:G:A,NC_000020.11:63562195:G:C
Gene:: HELZ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.63562196G>A, NC_000020.11:g.63562196G>C, NC_000020.10:g.62193549G>A, NC_000020.10:g.62193549G>C, NM_033405.3:c.4698C>T, NM_033405.3:c.4698C>G, NM_001037335.2:c.6405C>T, NM_001037335.2:c.6405C>G, XM_024452006.2:c.6489C>T, XM_024452006.2:c.6489C>G, XM_024452006.1:c.6489C>T, XM_024452006.1:c.6489C>G

Select item 148579467016.

rs1485794670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:63563645 (GRCh38)
20:62194998 (GRCh37)
Canonical SPDI:: NC_000020.11:63563644:C:A
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000020.11:g.63563645C>A, NC_000020.10:g.62194998C>A, NM_033405.3:c.3470G>T, NM_001037335.2:c.5177G>T, XM_024452006.2:c.5177G>T, XM_024452006.1:c.5177G>T, NP_208384.3:p.Ser1157Ile, NP_001032412.2:p.Ser1726Ile, XP_024307774.1:p.Ser1726Ile

Select item 148530439917.

rs1485304399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:63567081 (GRCh38)
20:62198434 (GRCh37)
Canonical SPDI:: NC_000020.11:63567080:C:T
Gene:: HELZ2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.63567081C>T, NC_000020.10:g.62198434C>T, NM_033405.3:c.570G>A, NM_001037335.2:c.2277G>A, XM_024452006.2:c.2277G>A, XM_024452006.1:c.2277G>A

Select item 148512277918.

rs1485122779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:63566042 (GRCh38)
20:62197395 (GRCh37)
Canonical SPDI:: NC_000020.11:63566041:A:G
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.63566042A>G, NC_000020.10:g.62197395A>G, NM_033405.3:c.1073T>C, NM_001037335.2:c.2780T>C, XM_024452006.2:c.2780T>C, XM_024452006.1:c.2780T>C, NP_208384.3:p.Leu358Pro, NP_001032412.2:p.Leu927Pro, XP_024307774.1:p.Leu927Pro

Select item 148497502219.

rs1484975022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:63567280 (GRCh38)
20:62198633 (GRCh37)
Canonical SPDI:: NC_000020.11:63567279:G:A
Gene:: HELZ2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.63567280G>A, NC_000020.10:g.62198633G>A, NM_033405.3:c.371C>T, NM_001037335.2:c.2078C>T, XM_024452006.2:c.2078C>T, XM_024452006.1:c.2078C>T, NP_208384.3:p.Ala124Val, NP_001032412.2:p.Ala693Val, XP_024307774.1:p.Ala693Val

Select item 148489438220.

rs1484894382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:63558118 (GRCh38)
20:62189471 (GRCh37)
Canonical SPDI:: NC_000020.11:63558117:A:C
Gene:: HELZ2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.63558118A>C, NC_000020.10:g.62189471A>C, NM_033405.3:c.*1128T>G, NM_001037335.2:c.*1128T>G, XM_024452006.2:c.*1128T>G, XM_024452006.1:c.*1128T>G

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