SNP Links for Gene (Select 377007) - SNP

Links from Gene

Items: 1 to 20 of 4579

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Select item 14908592451.

rs1490859245 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGG>- [Show Flanks]
Chromosome:: 2:238144408 (GRCh38)
2:239053049 (GRCh37)
Canonical SPDI:: NC_000002.12:238144404:AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGCAGGCAGG:AGG
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGG=0.000084/1 (ALFA)
-=0.003131/350 (GnomAD)
HGVS:: NC_000002.12:g.238144408_238144443del, NC_000002.11:g.239053049_239053084del

Select item 14906452662.

rs1490645266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:238149977 (GRCh38)
2:239058618 (GRCh37)
Canonical SPDI:: NC_000002.12:238149976:C:A,NC_000002.12:238149976:C:G
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00472/1 (Vietnamese)
HGVS:: NC_000002.12:g.238149977C>A, NC_000002.12:g.238149977C>G, NC_000002.11:g.239058618C>A, NC_000002.11:g.239058618C>G

Select item 14906180313.

rs1490618031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:238140069 (GRCh38)
2:239048710 (GRCh37)
Canonical SPDI:: NC_000002.12:238140068:C:T
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000002.12:g.238140069C>T, NC_000002.11:g.239048710C>T

Select item 14903851604.

rs1490385160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:238142948 (GRCh38)
2:239051589 (GRCh37)
Canonical SPDI:: NC_000002.12:238142947:C:A,NC_000002.12:238142947:C:T
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000002.12:g.238142948C>A, NC_000002.12:g.238142948C>T, NC_000002.11:g.239051589C>A, NC_000002.11:g.239051589C>T

Select item 14903207375.

rs1490320737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:238137375 (GRCh38)
2:239046016 (GRCh37)
Canonical SPDI:: NC_000002.12:238137374:T:C
Gene:: KLHL30 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.238137375T>C, NC_000002.11:g.239046016T>C

Select item 14896831056.

rs1489683105 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:238143284 (GRCh38)
2:239051925 (GRCh37)
Canonical SPDI:: NC_000002.12:238143283:C:A
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238143284C>A, NC_000002.11:g.239051925C>A

Select item 14896531057.

rs1489653105 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:238144395 (GRCh38)
2:239053037 (GRCh37)
Canonical SPDI:: NC_000002.12:238144395::C
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.00007/7 (GnomAD)
C=0.00061/10 (TOMMO)
HGVS:: NC_000002.12:g.238144395_238144396insC, NC_000002.11:g.239053036_239053037insC

Select item 14895238918.

rs1489523891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:238142507 (GRCh38)
2:239051148 (GRCh37)
Canonical SPDI:: NC_000002.12:238142506:C:A,NC_000002.12:238142506:C:T
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.238142507C>A, NC_000002.12:g.238142507C>T, NC_000002.11:g.239051148C>A, NC_000002.11:g.239051148C>T

Select item 14893202519.

rs1489320251 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: 2:238147161 (GRCh38)
2:239055802 (GRCh37)
Canonical SPDI:: NC_000002.12:238147158:AAGAA:AA
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.238147161_238147163del, NC_000002.11:g.239055802_239055804del

Select item 148913126410.

rs1489131264 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:238141717 (GRCh38)
2:239050358 (GRCh37)
Canonical SPDI:: NC_000002.12:238141716:G:A
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.238141717G>A, NC_000002.11:g.239050358G>A

Select item 148897366611.

rs1488973666 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:238139240 (GRCh38)
2:239047881 (GRCh37)
Canonical SPDI:: NC_000002.12:238139239:C:T
Gene:: KLHL30 (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_000002.12:g.238139240C>T, NC_000002.11:g.239047881C>T

Select item 148889678912.

rs1488896789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:238151648 (GRCh38)
2:239060289 (GRCh37)
Canonical SPDI:: NC_000002.12:238151647:A:C,NC_000002.12:238151647:A:G
Gene:: KLHL30 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.238151648A>C, NC_000002.12:g.238151648A>G, NC_000002.11:g.239060289A>C, NC_000002.11:g.239060289A>G, NM_198582.4:c.*583A>C, NM_198582.4:c.*583A>G, NM_198582.3:c.*583A>C, NM_198582.3:c.*583A>G

Select item 148855961613.

rs1488559616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:238148307 (GRCh38)
2:239056948 (GRCh37)
Canonical SPDI:: NC_000002.12:238148306:G:A,NC_000002.12:238148306:G:C
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.238148307G>A, NC_000002.12:g.238148307G>C, NC_000002.11:g.239056948G>A, NC_000002.11:g.239056948G>C

Select item 148855771114.

rs1488557711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:238148918 (GRCh38)
2:239057559 (GRCh37)
Canonical SPDI:: NC_000002.12:238148917:T:C,NC_000002.12:238148917:T:G
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.238148918T>C, NC_000002.12:g.238148918T>G, NC_000002.11:g.239057559T>C, NC_000002.11:g.239057559T>G

Select item 148824523915.

rs1488245239 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:238150886 (GRCh38)
2:239059527 (GRCh37)
Canonical SPDI:: NC_000002.12:238150885:GG:G
Gene:: KLHL30 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.238150887del, NC_000002.11:g.239059528del, NM_198582.4:c.1559del, NM_198582.3:c.1559del, NP_940984.3:p.Gly520fs

Select item 148792999116.

rs1487929991 [Homo sapiens]

Variant type:: SNV:
Alleles:: CT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148792358917.

rs1487923589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:238141388 (GRCh38)
2:239050029 (GRCh37)
Canonical SPDI:: NC_000002.12:238141387:G:A
Gene:: KLHL30 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.238141388G>A, NC_000002.11:g.239050029G>A, NM_198582.4:c.634G>A, NM_198582.3:c.634G>A, NP_940984.3:p.Ala212Thr

Select item 148780064218.

rs1487800642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:238142955 (GRCh38)
2:239051596 (GRCh37)
Canonical SPDI:: NC_000002.12:238142954:A:G
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.238142955A>G, NC_000002.11:g.239051596A>G

Select item 148735413819.

rs1487354138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:238139281 (GRCh38)
2:239047922 (GRCh37)
Canonical SPDI:: NC_000002.12:238139280:G:A,NC_000002.12:238139280:G:C
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000132/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.238139281G>A, NC_000002.12:g.238139281G>C, NC_000002.11:g.239047922G>A, NC_000002.11:g.239047922G>C

Select item 148724498520.

rs1487244985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:238144472 (GRCh38)
2:239053113 (GRCh37)
Canonical SPDI:: NC_000002.12:238144471:C:A
Gene:: KLHL30 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.238144472C>A, NC_000002.11:g.239053113C>A

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