SNP Links for Nucleotide (Select 260593660) - SNP

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Links from Nucleotide

Items: 1 to 20 of 4917

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Select item 14913947261.

rs1491394726 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 17:58189165 (GRCh38)
17:56266527 (GRCh37)
Canonical SPDI:: NC_000017.11:58189165:CG:CGCG
Validated:: by frequency,by alfa,by cluster
MAF:: CGCG=0.00008/1 (ALFA)
CG=0.00007/5 (GnomAD)
HGVS:: NC_000017.11:g.58189166_58189167dup, NC_000017.10:g.56266527_56266528dup, NG_013020.1:g.1439_1440dup

Select item 14909726452.

rs1490972645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58195683 (GRCh38)
17:56273044 (GRCh37)
Canonical SPDI:: NC_000017.11:58195682:C:T
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.58195683C>T, NC_000017.10:g.56273044C>T, NG_013020.1:g.7956C>T

Select item 14907190853.

rs1490719085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58202275 (GRCh38)
17:56279636 (GRCh37)
Canonical SPDI:: NC_000017.11:58202274:C:T
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.58202275C>T, NC_000017.10:g.56279636C>T, NG_013020.1:g.14548C>T

Select item 14901439224.

rs1490143922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58201846 (GRCh38)
17:56279207 (GRCh37)
Canonical SPDI:: NC_000017.11:58201845:T:C
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.58201846T>C, NC_000017.10:g.56279207T>C, NG_013020.1:g.14119T>C

Select item 14899371315.

rs1489937131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58203115 (GRCh38)
17:56280476 (GRCh37)
Canonical SPDI:: NC_000017.11:58203114:C:T
Gene:: EPX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58203115C>T, NC_000017.10:g.56280476C>T, NG_013020.1:g.15388C>T, NM_000502.6:c.1743C>T, NM_000502.5:c.1743C>T, NM_000502.4:c.1743C>T

Select item 14896270216.

rs1489627021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58193621 (GRCh38)
17:56270982 (GRCh37)
Canonical SPDI:: NC_000017.11:58193620:G:T
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58193621G>T, NC_000017.10:g.56270982G>T, NG_013020.1:g.5894G>T

Select item 14895155867.

rs1489515586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58201388 (GRCh38)
17:56278749 (GRCh37)
Canonical SPDI:: NC_000017.11:58201387:G:T
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.58201388G>T, NC_000017.10:g.56278749G>T, NG_013020.1:g.13661G>T

Select item 14891107168.

rs1489110716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:58206793 (GRCh38)
17:56284154 (GRCh37)
Canonical SPDI:: NC_000017.11:58206792:T:C
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58206793T>C, NC_000017.10:g.56284154T>C, NG_013032.1:g.17813A>G, NG_013020.1:g.19066T>C

Select item 14890698269.

rs1489069826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58206275 (GRCh38)
17:56283636 (GRCh37)
Canonical SPDI:: NC_000017.11:58206274:G:A
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58206275G>A, NC_000017.10:g.56283636G>A, NG_013032.1:g.18331C>T, NG_013020.1:g.18548G>A

Select item 148899807510.

rs1488998075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:58206296 (GRCh38)
17:56283657 (GRCh37)
Canonical SPDI:: NC_000017.11:58206295:A:T
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.58206296A>T, NC_000017.10:g.56283657A>T, NG_013032.1:g.18310T>A, NM_017777.4:c.1575T>A, NM_017777.3:c.1575T>A, NM_001321269.2:c.1492T>A, NM_001321269.1:c.1492T>A, NM_001321268.2:c.966T>A, NM_001321268.1:c.966T>A, NM_001330397.2:c.1358T>A, NM_001330397.1:c.1358T>A, NM_001165927.1:c.1545T>A, NG_013020.1:g.18569A>T, XM_005257485.5:c.1063T>A, XM_005257485.4:c.1063T>A, XM_005257485.3:c.1063T>A, XM_005257485.2:c.1063T>A, XM_005257485.1:c.1063T>A, XM_011524958.3:c.1584T>A, XM_011524958.2:c.1584T>A, XM_011524958.1:c.1584T>A, XM_011524957.3:c.1501T>A, XM_011524957.2:c.1501T>A, XM_011524957.1:c.1501T>A, XM_047436333.1:c.883T>A, NP_001308198.1:p.Ser498Thr, NP_001317326.1:p.Phe453Tyr, XP_005257542.1:p.Ser355Thr, XP_011523259.1:p.Ser501Thr, XP_047292289.1:p.Ser295Thr

Select item 148896502011.

rs1488965020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58193270 (GRCh38)
17:56270631 (GRCh37)
Canonical SPDI:: NC_000017.11:58193269:C:T
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58193270C>T, NC_000017.10:g.56270631C>T, NG_013020.1:g.5543C>T

Select item 148877243812.

rs1488772438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58196047 (GRCh38)
17:56273408 (GRCh37)
Canonical SPDI:: NC_000017.11:58196046:C:T
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.58196047C>T, NC_000017.10:g.56273408C>T, NG_013020.1:g.8320C>T

Select item 148876929613.

rs1488769296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:58190778 (GRCh38)
17:56268139 (GRCh37)
Canonical SPDI:: NC_000017.11:58190777:C:A,NC_000017.11:58190777:C:T
Gene:: EPX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58190778C>A, NC_000017.11:g.58190778C>T, NC_000017.10:g.56268139C>A, NC_000017.10:g.56268139C>T, NG_013020.1:g.3051C>A, NG_013020.1:g.3051C>T

Select item 148846776514.

rs1488467765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58191424 (GRCh38)
17:56268785 (GRCh37)
Canonical SPDI:: NC_000017.11:58191423:C:T
Gene:: EPX (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
T=0.00003/3 (GnomAD)
HGVS:: NC_000017.11:g.58191424C>T, NC_000017.10:g.56268785C>T, NG_013020.1:g.3697C>T

Select item 148839378515.

rs1488393785 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAACA>- [Show Flanks]
Chromosome:: 17:58205799 (GRCh38)
17:56283160 (GRCh37)
Canonical SPDI:: NC_000017.11:58205798:CAAACA:
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.58205799_58205804del, NC_000017.10:g.56283160_56283165del, NG_013032.1:g.18802_18807del, NM_017777.4:c.*275_*280del, NM_017777.3:c.*275_*280del, NM_001321269.2:c.*186_*191del, NM_001321269.1:c.*186_*191del, NM_001321268.2:c.*275_*280del, NM_001321268.1:c.*275_*280del, NM_001330397.2:c.*367_*372del, NM_001330397.1:c.*367_*372del, NM_001165927.1:c.*275_*280del, NG_013020.1:g.18072_18077del, XM_005257485.5:c.*186_*191del, XM_005257485.4:c.*186_*191del, XM_005257485.3:c.*186_*191del, XM_005257485.2:c.*186_*191del, XM_005257485.1:c.*186_*191del, XM_011524958.3:c.*275_*280del, XM_011524958.2:c.*275_*280del, XM_011524958.1:c.*275_*280del, XM_011524957.3:c.*186_*191del, XM_011524957.2:c.*186_*191del, XM_011524957.1:c.*186_*191del, XM_047436333.1:c.*186_*191del

Select item 148826327616.

rs1488263276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:58189109 (GRCh38)
17:56266470 (GRCh37)
Canonical SPDI:: NC_000017.11:58189108:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.58189109C>T, NC_000017.10:g.56266470C>T, NG_013020.1:g.1382C>T

Select item 148822802417.

rs1488228024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:58203889 (GRCh38)
17:56281250 (GRCh37)
Canonical SPDI:: NC_000017.11:58203888:G:A
Gene:: EPX (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000028/3 (GnomAD)
HGVS:: NC_000017.11:g.58203889G>A, NC_000017.10:g.56281250G>A, NG_013032.1:g.20717C>T, NG_013020.1:g.16162G>A

Select item 148725772118.

rs1487257721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:58206967 (GRCh38)
17:56284328 (GRCh37)
Canonical SPDI:: NC_000017.11:58206966:G:T
Gene:: MKS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.58206967G>T, NC_000017.10:g.56284328G>T, NG_013032.1:g.17639C>A, NG_013020.1:g.19240G>T