SNP Links for Gene (Select 100144595) - SNP

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Select item 14915767101.

rs1491576710 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:154449480 (GRCh38)
2:155305992 (GRCh37)
Canonical SPDI:: NC_000002.12:154449479:CA:
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.154449480_154449481del, NC_000002.11:g.155305992_155305993del

Select item 14915295232.

rs1491529523 has merged into rs758342590 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTTT,TTTTTGTTGTTGTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:154456192 (GRCh38)
2:155312704 (GRCh37)
Canonical SPDI:: NC_000002.12:154456189:TTTT:TT,NC_000002.12:154456189:TTTT:TTTTTTT,NC_000002.12:154456189:TTTT:TTTTTTTGTTGTTGTTTTT,NC_000002.12:154456189:TTTT:TTTTTTTTTT
Gene:: LOC100144595 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00396/47 (ALFA)
-=0.00008/2 (GnomAD)
HGVS:: NC_000002.12:g.154456192_154456193del, NC_000002.12:g.154456191_154456193dup, NC_000002.12:g.154456190_154456193T[7]GTT[3]TTT[1], NC_000002.12:g.154456193_154456194insTTTTTT, NC_000002.11:g.155312704_155312705del, NC_000002.11:g.155312703_155312705dup, NC_000002.11:g.155312702_155312705T[7]GTT[3]TTT[1], NC_000002.11:g.155312705_155312706insTTTTTT

Select item 14914403403.

rs1491440340 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:154456190 (GRCh38)
2:155312703 (GRCh37)
Canonical SPDI:: NC_000002.12:154456190::G
Gene:: LOC100144595 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.00008/2 (GnomAD)
HGVS:: NC_000002.12:g.154456190_154456191insG, NC_000002.11:g.155312702_155312703insG

Select item 14911489734.

rs1491148973 [Homo sapiens]

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

Select item 14911091315.

rs1491109131 has merged into rs201483247 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:154449434 (GRCh38)
2:155305946 (GRCh37)
Canonical SPDI:: NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:154449426:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.3819/1472 (ALSPAC)
AAAAAAAAAAAAAAAAA=0.3824/1915 (1000Genomes)
HGVS:: NC_000002.12:g.154449434_154449451del, NC_000002.12:g.154449435_154449451del, NC_000002.12:g.154449438_154449451del, NC_000002.12:g.154449439_154449451del, NC_000002.12:g.154449440_154449451del, NC_000002.12:g.154449441_154449451del, NC_000002.12:g.154449442_154449451del, NC_000002.12:g.154449443_154449451del, NC_000002.12:g.154449444_154449451del, NC_000002.12:g.154449445_154449451del, NC_000002.12:g.154449446_154449451del, NC_000002.12:g.154449447_154449451del, NC_000002.12:g.154449448_154449451del, NC_000002.12:g.154449449_154449451del, NC_000002.12:g.154449450_154449451del, NC_000002.12:g.154449451del, NC_000002.12:g.154449451dup, NC_000002.12:g.154449450_154449451dup, NC_000002.12:g.154449449_154449451dup, NC_000002.12:g.154449448_154449451dup, NC_000002.12:g.154449447_154449451dup, NC_000002.11:g.155305946_155305963del, NC_000002.11:g.155305947_155305963del, NC_000002.11:g.155305950_155305963del, NC_000002.11:g.155305951_155305963del, NC_000002.11:g.155305952_155305963del, NC_000002.11:g.155305953_155305963del, NC_000002.11:g.155305954_155305963del, NC_000002.11:g.155305955_155305963del, NC_000002.11:g.155305956_155305963del, NC_000002.11:g.155305957_155305963del, NC_000002.11:g.155305958_155305963del, NC_000002.11:g.155305959_155305963del, NC_000002.11:g.155305960_155305963del, NC_000002.11:g.155305961_155305963del, NC_000002.11:g.155305962_155305963del, NC_000002.11:g.155305963del, NC_000002.11:g.155305963dup, NC_000002.11:g.155305962_155305963dup, NC_000002.11:g.155305961_155305963dup, NC_000002.11:g.155305960_155305963dup, NC_000002.11:g.155305959_155305963dup

Select item 14906066106.

rs1490606610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:154457105 (GRCh38)
2:155313617 (GRCh37)
Canonical SPDI:: NC_000002.12:154457104:A:T
Gene:: LOC100144595 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000193/51 (TOPMED)
T=0.000285/40 (GnomAD)
HGVS:: NC_000002.12:g.154457105A>T, NC_000002.11:g.155313617A>T

Select item 14905472237.

rs1490547223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:154442017 (GRCh38)
2:155298529 (GRCh37)
Canonical SPDI:: NC_000002.12:154442016:A:G
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.154442017A>G, NC_000002.11:g.155298529A>G

Select item 14902524348.

rs1490252434 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: 2:154448665 (GRCh38)
2:155305177 (GRCh37)
Canonical SPDI:: NC_000002.12:154448662:TTATTT:TT
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.154448665_154448668del, NC_000002.11:g.155305177_155305180del

Select item 14902206229.

rs1490220622 has merged into rs35845747 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 2:154449489 (GRCh38)
2:155306001 (GRCh37)
Canonical SPDI:: NC_000002.12:154449480:AAAAAAAAAA:AAAAAAAA,NC_000002.12:154449480:AAAAAAAAAA:AAAAAAAAA,NC_000002.12:154449480:AAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:154449480:AAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:154449480:AAAAAAAAAA:AAAAAAAAAAAAA
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.09405/471 (1000Genomes)
-=0.125/5 (GENOME_DK)
-=0.453271/97 (Vietnamese)
HGVS:: NC_000002.12:g.154449489_154449490del, NC_000002.12:g.154449490del, NC_000002.12:g.154449490dup, NC_000002.12:g.154449489_154449490dup, NC_000002.12:g.154449488_154449490dup, NC_000002.11:g.155306001_155306002del, NC_000002.11:g.155306002del, NC_000002.11:g.155306002dup, NC_000002.11:g.155306001_155306002dup, NC_000002.11:g.155306000_155306002dup

Select item 149015741010.

rs1490157410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:154439495 (GRCh38)
2:155296007 (GRCh37)
Canonical SPDI:: NC_000002.12:154439494:T:G
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.154439495T>G, NC_000002.11:g.155296007T>G

Select item 149011905811.

rs1490119058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:154456636 (GRCh38)
2:155313148 (GRCh37)
Canonical SPDI:: NC_000002.12:154456635:A:G
Gene:: LOC100144595 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.154456636A>G, NC_000002.11:g.155313148A>G

Select item 149007409412.

rs1490074094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:154457694 (GRCh38)
2:155314206 (GRCh37)
Canonical SPDI:: NC_000002.12:154457693:T:C
Gene:: LOC100144595 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.154457694T>C, NC_000002.11:g.155314206T>C

Select item 148966756513.

rs1489667565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:154442970 (GRCh38)
2:155299482 (GRCh37)
Canonical SPDI:: NC_000002.12:154442969:T:A
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.154442970T>A, NC_000002.11:g.155299482T>A

Select item 148966448314.

rs1489664483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:154449202 (GRCh38)
2:155305714 (GRCh37)
Canonical SPDI:: NC_000002.12:154449201:T:C
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.154449202T>C, NC_000002.11:g.155305714T>C

Select item 148955343315.

rs1489553433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:154453655 (GRCh38)
2:155310167 (GRCh37)
Canonical SPDI:: NC_000002.12:154453654:G:A,NC_000002.12:154453654:G:T
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.154453655G>A, NC_000002.12:g.154453655G>T, NC_000002.11:g.155310167G>A, NC_000002.11:g.155310167G>T, NM_052917.4:c.*3104G>A, NM_052917.4:c.*3104G>T, NM_052917.3:c.*3104G>A, NM_052917.3:c.*3104G>T, NM_052917.2:c.*3104G>A, NM_052917.2:c.*3104G>T, NM_001301627.2:c.*3257G>A, NM_001301627.2:c.*3257G>T, NM_001301627.1:c.*3257G>A, NM_001301627.1:c.*3257G>T, NM_001376402.1:c.*3104G>A, NM_001376402.1:c.*3104G>T, NM_001376401.1:c.*3104G>A, NM_001376401.1:c.*3104G>T, NM_001376400.1:c.*3104G>A, NM_001376400.1:c.*3104G>T, NM_001376398.1:c.*3104G>A, NM_001376398.1:c.*3104G>T, NM_001376394.1:c.*3104G>A, NM_001376394.1:c.*3104G>T, NM_001376404.1:c.*3257G>A, NM_001376404.1:c.*3257G>T, NM_001376403.1:c.*3257G>A, NM_001376403.1:c.*3257G>T, NM_001376392.1:c.*3104G>A, NM_001376392.1:c.*3104G>T, NM_001376405.1:c.*3104G>A, NM_001376405.1:c.*3104G>T, XM_047443120.1:c.*3104G>A, XM_047443120.1:c.*3104G>T

Select item 148949027016.

rs1489490270 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 2:154455343 (GRCh38)
2:155311856 (GRCh37)
Canonical SPDI:: NC_000002.12:154455343:T:TT
Gene:: LOC100144595 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.154455344dup, NC_000002.11:g.155311856dup

Select item 148936922917.

rs1489369229 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:154457240 (GRCh38)
2:155313752 (GRCh37)
Canonical SPDI:: NC_000002.12:154457237:CTCT:CT
Gene:: LOC100144595 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.154457238CT[1], NC_000002.11:g.155313750CT[1]

Select item 148908858618.

rs1489088586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:154452767 (GRCh38)
2:155309279 (GRCh37)
Canonical SPDI:: NC_000002.12:154452766:A:G
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.154452767A>G, NC_000002.11:g.155309279A>G, NM_052917.4:c.*2216A>G, NM_052917.3:c.*2216A>G, NM_052917.2:c.*2216A>G, NM_001301627.2:c.*2369A>G, NM_001301627.1:c.*2369A>G, NM_001376402.1:c.*2216A>G, NM_001376401.1:c.*2216A>G, NM_001376400.1:c.*2216A>G, NM_001376398.1:c.*2216A>G, NM_001376394.1:c.*2216A>G, NM_001376404.1:c.*2369A>G, NM_001376403.1:c.*2369A>G, NM_001376392.1:c.*2216A>G, NM_001376405.1:c.*2216A>G, XM_047443120.1:c.*2216A>G

Select item 148904817019.

rs1489048170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:154437527 (GRCh38)
2:155294039 (GRCh37)
Canonical SPDI:: NC_000002.12:154437526:A:G,NC_000002.12:154437526:A:T
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.154437527A>G, NC_000002.12:g.154437527A>T, NC_000002.11:g.155294039A>G, NC_000002.11:g.155294039A>T, NR_161181.1:n.688T>C, NR_161181.1:n.688T>A, NM_001256368.1:c.*64T>C, NM_001256368.1:c.*64T>A

Select item 148876352020.

rs1488763520 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:154450737 (GRCh38)
2:155307249 (GRCh37)
Canonical SPDI:: NC_000002.12:154450736:A:G
Gene:: GALNT13 (Varview), LOC100144595 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.154450737A>G, NC_000002.11:g.155307249A>G, NM_052917.4:c.*186A>G, NM_052917.3:c.*186A>G, NM_052917.2:c.*186A>G, NM_001301627.2:c.*339A>G, NM_001301627.1:c.*339A>G, NM_001376402.1:c.*186A>G, NM_001376401.1:c.*186A>G, NM_001376400.1:c.*186A>G, NM_001376398.1:c.*186A>G, NM_001376394.1:c.*186A>G, NM_001376404.1:c.*339A>G, NM_001376403.1:c.*339A>G, NM_001376392.1:c.*186A>G, NM_001376405.1:c.*186A>G, XM_047443120.1:c.*186A>G

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