SNP Links for Gene (Select 337972) - SNP

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Select item 14886520361.

rs1488652036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:30502812 (GRCh38)
21:31875130 (GRCh37)
Canonical SPDI:: NC_000021.9:30502811:A:C,NC_000021.9:30502811:A:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00068/2 (KOREAN)
G=0.00287/48 (TOMMO)
HGVS:: NC_000021.9:g.30502812A>C, NC_000021.9:g.30502812A>G, NC_000021.8:g.31875130A>C, NC_000021.8:g.31875130A>G

Select item 14871203432.

rs1487120343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:30502333 (GRCh38)
21:31874651 (GRCh37)
Canonical SPDI:: NC_000021.9:30502332:C:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.30502333C>G, NC_000021.8:g.31874651C>G

Select item 14865222453.

rs1486522245 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30502752 (GRCh38)
21:31875070 (GRCh37)
Canonical SPDI:: NC_000021.9:30502751:T:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30502752T>G, NC_000021.8:g.31875070T>G

Select item 14860579124.

rs1486057912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30503620 (GRCh38)
21:31875938 (GRCh37)
Canonical SPDI:: NC_000021.9:30503619:C:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000021.9:g.30503620C>A, NC_000021.8:g.31875938C>A

Select item 14859188205.

rs1485918820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:30502051 (GRCh38)
21:31874369 (GRCh37)
Canonical SPDI:: NC_000021.9:30502050:C:T
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.30502051C>T, NC_000021.8:g.31874369C>T, NM_181611.3:c.40G>A, NM_181611.2:c.40G>A, NM_181611.1:c.40G>A, NP_853642.1:p.Gly14Ser

Select item 14849007856.

rs1484900785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:30501228 (GRCh38)
21:31873546 (GRCh37)
Canonical SPDI:: NC_000021.9:30501227:T:C
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.30501228T>C, NC_000021.8:g.31873546T>C

Select item 14848925537.

rs1484892553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30502242 (GRCh38)
21:31874560 (GRCh37)
Canonical SPDI:: NC_000021.9:30502241:G:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30502242G>A, NC_000021.8:g.31874560G>A

Select item 14846606038.

rs1484660603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30501662 (GRCh38)
21:31873980 (GRCh37)
Canonical SPDI:: NC_000021.9:30501661:C:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.30501662C>A, NC_000021.8:g.31873980C>A, NM_181611.3:c.*210G>T, NM_181611.2:c.*210G>T

Select item 14842395279.

rs1484239527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30501351 (GRCh38)
21:31873669 (GRCh37)
Canonical SPDI:: NC_000021.9:30501350:G:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000021.9:g.30501351G>A, NC_000021.8:g.31873669G>A

Select item 148359505410.

rs1483595054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:30503033 (GRCh38)
21:31875351 (GRCh37)
Canonical SPDI:: NC_000021.9:30503032:G:C
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.30503033G>C, NC_000021.8:g.31875351G>C

Select item 148001924511.

rs1480019245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30502350 (GRCh38)
21:31874668 (GRCh37)
Canonical SPDI:: NC_000021.9:30502349:C:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.30502350C>A, NC_000021.8:g.31874668C>A

Select item 147968887312.

rs1479688873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30502887 (GRCh38)
21:31875205 (GRCh37)
Canonical SPDI:: NC_000021.9:30502886:A:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000021.9:g.30502887A>G, NC_000021.8:g.31875205A>G

Select item 147915722613.

rs1479157226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:30504110 (GRCh38)
21:31876428 (GRCh37)
Canonical SPDI:: NC_000021.9:30504109:T:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.30504110T>G, NC_000021.8:g.31876428T>G

Select item 147769988314.

rs1477699883 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30503297 (GRCh38)
21:31875615 (GRCh37)
Canonical SPDI:: NC_000021.9:30503296:G:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.30503297G>A, NC_000021.8:g.31875615G>A

Select item 147734641115.

rs1477346411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:30503569 (GRCh38)
21:31875887 (GRCh37)
Canonical SPDI:: NC_000021.9:30503568:A:C,NC_000021.9:30503568:A:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.30503569A>C, NC_000021.9:g.30503569A>G, NC_000021.8:g.31875887A>C, NC_000021.8:g.31875887A>G

Select item 147721390916.

rs1477213909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:30501329 (GRCh38)
21:31873647 (GRCh37)
Canonical SPDI:: NC_000021.9:30501328:G:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000038/10 (TOPMED)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000021.9:g.30501329G>A, NC_000021.8:g.31873647G>A

Select item 147671153017.

rs1476711530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:30503588 (GRCh38)
21:31875906 (GRCh37)
Canonical SPDI:: NC_000021.9:30503587:A:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.30503588A>G, NC_000021.8:g.31875906A>G

Select item 147652300518.

rs1476523005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 21:30502067 (GRCh38)
21:31874385 (GRCh37)
Canonical SPDI:: NC_000021.9:30502066:A:C,NC_000021.9:30502066:A:G
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.30502067A>C, NC_000021.9:g.30502067A>G, NC_000021.8:g.31874385A>C, NC_000021.8:g.31874385A>G, NM_181611.3:c.24T>G, NM_181611.3:c.24T>C, NM_181611.2:c.24T>G, NM_181611.2:c.24T>C, NM_181611.1:c.24T>G, NM_181611.1:c.24T>C, NP_853642.1:p.Tyr8Ter

Select item 147595631119.

rs1475956311 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 21:30501862 (GRCh38)
21:31874180 (GRCh37)
Canonical SPDI:: NC_000021.9:30501861:GGG:GG
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.30501864del, NC_000021.8:g.31874182del, NM_181611.3:c.*10del, NM_181611.2:c.*10del

Select item 147510683520.

rs1475106835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:30501219 (GRCh38)
21:31873537 (GRCh37)
Canonical SPDI:: NC_000021.9:30501218:C:A
Gene:: KRTAP19-5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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_000021.9:g.30501219C>A, NC_000021.8:g.31873537C>A

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