SNP Links for Gene (Select 164781) - SNP

Links from Gene

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Select item 14915311391.

rs1491531139 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:227872275 (GRCh38)
2:228736991 (GRCh37)
Canonical SPDI:: NC_000002.12:227872274:CA:
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.227872275_227872276del, NC_000002.11:g.228736991_228736992del, XM_047443536.1:c.-182_-181del

Select item 14914574872.

rs1491457487 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:227880397 (GRCh38)
2:228745114 (GRCh37)
Canonical SPDI:: NC_000002.12:227880397:A:AA
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000002.12:g.227880398dup, NC_000002.11:g.228745114dup

Select item 14914143233.

rs1491414323 has merged into rs5839240 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:227896608 (GRCh38)
2:228761324 (GRCh37)
Canonical SPDI:: NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:227896593:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.227896594GT[7], NC_000002.12:g.227896594GT[8], NC_000002.12:g.227896594GT[10], NC_000002.12:g.227896594GT[11], NC_000002.12:g.227896594GT[12], NC_000002.12:g.227896594GT[13], NC_000002.12:g.227896594GT[14], NC_000002.12:g.227896594GT[15], NC_000002.12:g.227896594GT[16], NC_000002.12:g.227896594GT[17], NC_000002.12:g.227896594GT[18], NC_000002.12:g.227896594GT[20], NC_000002.12:g.227896594GT[21], NC_000002.12:g.227896594GT[22], NC_000002.12:g.227896594GT[23], NC_000002.12:g.227896594GT[24], NC_000002.12:g.227896594GT[25], NC_000002.12:g.227896594GT[26], NC_000002.12:g.227896594GT[29], NC_000002.11:g.228761310GT[7], NC_000002.11:g.228761310GT[8], NC_000002.11:g.228761310GT[10], NC_000002.11:g.228761310GT[11], NC_000002.11:g.228761310GT[12], NC_000002.11:g.228761310GT[13], NC_000002.11:g.228761310GT[14], NC_000002.11:g.228761310GT[15], NC_000002.11:g.228761310GT[16], NC_000002.11:g.228761310GT[17], NC_000002.11:g.228761310GT[18], NC_000002.11:g.228761310GT[20], NC_000002.11:g.228761310GT[21], NC_000002.11:g.228761310GT[22], NC_000002.11:g.228761310GT[23], NC_000002.11:g.228761310GT[24], NC_000002.11:g.228761310GT[25], NC_000002.11:g.228761310GT[26], NC_000002.11:g.228761310GT[29]

Select item 14913635074.

rs1491363507 [Homo sapiens]

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

Select item 14913366315.

rs1491336631 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 2:227911257 (GRCh38)
2:228775973 (GRCh37)
Canonical SPDI:: NC_000002.12:227911256:CG:
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.006165/833 (GnomAD)
HGVS:: NC_000002.12:g.227911257_227911258del, NC_000002.11:g.228775973_228775974del

Select item 14913190806.

rs1491319080 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:227911257 (GRCh38)
2:228775974 (GRCh37)
Canonical SPDI:: NC_000002.12:227911257:GTGT:GTGTGT
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.227911258GT[3], NC_000002.11:g.228775974GT[3]

Select item 14912940727.

rs1491294072 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:227880397 (GRCh38)
2:228745113 (GRCh37)
Canonical SPDI:: NC_000002.12:227880396:TA:
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00049/8 (ALFA)
HGVS:: NC_000002.12:g.227880397_227880398del, NC_000002.11:g.228745113_228745114del

Select item 14912548978.

rs1491254897 has merged into rs71723734 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCTCTCTCT>-,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 2:227913998 (GRCh38)
2:228778714 (GRCh37)
Canonical SPDI:: NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCT,NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000002.12:227913988:TCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
TCTCTC=0.000227/60 (TOPMED)
TC=0.001923/4 (1000Genomes)
-=0.021017/81 (ALSPAC)
HGVS:: NC_000002.12:g.227913990CT[4], NC_000002.12:g.227913990CT[7], NC_000002.12:g.227913990CT[8], NC_000002.12:g.227913990CT[9], NC_000002.12:g.227913990CT[10], NC_000002.12:g.227913990CT[12], NC_000002.12:g.227913990CT[13], NC_000002.12:g.227913990CT[14], NC_000002.11:g.228778706CT[4], NC_000002.11:g.228778706CT[7], NC_000002.11:g.228778706CT[8], NC_000002.11:g.228778706CT[9], NC_000002.11:g.228778706CT[10], NC_000002.11:g.228778706CT[12], NC_000002.11:g.228778706CT[13], NC_000002.11:g.228778706CT[14]

Select item 14910569469.

rs1491056946 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAGACACATTATATAATAAACTGAAC [Show Flanks]
Chromosome:: 2:227898298 (GRCh38)
2:228763015 (GRCh37)
Canonical SPDI:: NC_000002.12:227898298::AAGACACATTATATAATAAACTGAAC
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: AAGACACATTATATAATAAACTGAAC=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.227898298_227898299insAAGACACATTATATAATAAACTGAAC, NC_000002.11:g.228763014_228763015insAAGACACATTATATAATAAACTGAAC

Select item 149098484810.

rs1490984848 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:227892312 (GRCh38)
2:228757028 (GRCh37)
Canonical SPDI:: NC_000002.12:227892311:T:C
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.227892312T>C, NC_000002.11:g.228757028T>C

Select item 149087552211.

rs1490875522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227921581 (GRCh38)
2:228786297 (GRCh37)
Canonical SPDI:: NC_000002.12:227921580:C:T
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.227921581C>T, NC_000002.11:g.228786297C>T

Select item 149084659312.

rs1490846593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227894376 (GRCh38)
2:228759092 (GRCh37)
Canonical SPDI:: NC_000002.12:227894375:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.227894376A>G, NC_000002.11:g.228759092A>G

Select item 149083827913.

rs1490838279 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:227877137 (GRCh38)
2:228741853 (GRCh37)
Canonical SPDI:: NC_000002.12:227877135:ACA:A
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.227877137_227877138del, NC_000002.11:g.228741853_228741854del

Select item 149081507914.

rs1490815079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227891632 (GRCh38)
2:228756348 (GRCh37)
Canonical SPDI:: NC_000002.12:227891631:C:T
Gene:: DAW1 (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.227891632C>T, NC_000002.11:g.228756348C>T

Select item 149075702715.

rs1490757027 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACATA>- [Show Flanks]
Chromosome:: 2:227911267 (GRCh38)
2:228775983 (GRCh37)
Canonical SPDI:: NC_000002.12:227911263:ATACACATA:ATA
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
-=0.000186/25 (GnomAD)
HGVS:: NC_000002.12:g.227911267_227911272del, NC_000002.11:g.228775983_228775988del

Select item 149074004116.

rs1490740041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227908725 (GRCh38)
2:228773441 (GRCh37)
Canonical SPDI:: NC_000002.12:227908724:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.227908725A>G, NC_000002.11:g.228773441A>G

Select item 149073058717.

rs1490730587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:227876719 (GRCh38)
2:228741435 (GRCh37)
Canonical SPDI:: NC_000002.12:227876718:G:A
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.227876719G>A, NC_000002.11:g.228741435G>A

Select item 149072547518.

rs1490725475 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:227907758 (GRCh38)
2:228772474 (GRCh37)
Canonical SPDI:: NC_000002.12:227907757:G:A,NC_000002.12:227907757:G:C
Gene:: DAW1 (Varview)
Functional Consequence:: intron_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_000002.12:g.227907758G>A, NC_000002.12:g.227907758G>C, NC_000002.11:g.228772474G>A, NC_000002.11:g.228772474G>C

Select item 149070643719.

rs1490706437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:227921906 (GRCh38)
2:228786622 (GRCh37)
Canonical SPDI:: NC_000002.12:227921905:C:T
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.227921906C>T, NC_000002.11:g.228786622C>T

Select item 149070257820.

rs1490702578 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:227874567 (GRCh38)
2:228739283 (GRCh37)
Canonical SPDI:: NC_000002.12:227874566:A:G
Gene:: DAW1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.227874567A>G, NC_000002.11:g.228739283A>G

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