SNP Links for Gene (Select 401022) - SNP

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Select item 14915507141.

rs1491550714 has merged into rs59862521 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:176177089 (GRCh38)
2:177041817 (GRCh37)
Canonical SPDI:: NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.3674/1840 (1000Genomes)
HGVS:: NC_000002.12:g.176177089_176177102del, NC_000002.12:g.176177091_176177102del, NC_000002.12:g.176177092_176177102del, NC_000002.12:g.176177093_176177102del, NC_000002.12:g.176177094_176177102del, NC_000002.12:g.176177095_176177102del, NC_000002.12:g.176177096_176177102del, NC_000002.12:g.176177097_176177102del, NC_000002.12:g.176177098_176177102del, NC_000002.12:g.176177099_176177102del, NC_000002.12:g.176177100_176177102del, NC_000002.12:g.176177101_176177102del, NC_000002.12:g.176177102del, NC_000002.12:g.176177102dup, NC_000002.12:g.176177101_176177102dup, NC_000002.12:g.176177100_176177102dup, NC_000002.12:g.176177099_176177102dup, NC_000002.12:g.176177098_176177102dup, NC_000002.12:g.176177096_176177102dup, NC_000002.12:g.176177095_176177102dup, NC_000002.12:g.176177083_176177102dup, NC_000002.12:g.176177078_176177102dup, NC_000002.12:g.176177102_176177103insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.177041817_177041830del, NC_000002.11:g.177041819_177041830del, NC_000002.11:g.177041820_177041830del, NC_000002.11:g.177041821_177041830del, NC_000002.11:g.177041822_177041830del, NC_000002.11:g.177041823_177041830del, NC_000002.11:g.177041824_177041830del, NC_000002.11:g.177041825_177041830del, NC_000002.11:g.177041826_177041830del, NC_000002.11:g.177041827_177041830del, NC_000002.11:g.177041828_177041830del, NC_000002.11:g.177041829_177041830del, NC_000002.11:g.177041830del, NC_000002.11:g.177041830dup, NC_000002.11:g.177041829_177041830dup, NC_000002.11:g.177041828_177041830dup, NC_000002.11:g.177041827_177041830dup, NC_000002.11:g.177041826_177041830dup, NC_000002.11:g.177041824_177041830dup, NC_000002.11:g.177041823_177041830dup, NC_000002.11:g.177041811_177041830dup, NC_000002.11:g.177041806_177041830dup, NC_000002.11:g.177041830_177041831insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914412032.

rs1491441203 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:176177077 (GRCh38)
2:177041805 (GRCh37)
Canonical SPDI:: NC_000002.12:176177076:CA:
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000002.12:g.176177077_176177078del, NC_000002.11:g.177041805_177041806del

Select item 14911981923.

rs1491198192 has merged into rs980437848 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 2:176181853 (GRCh38)
2:177046581 (GRCh37)
Canonical SPDI:: NC_000002.12:176181849:ATATATATA:ATA,NC_000002.12:176181849:ATATATATA:ATATATA,NC_000002.12:176181849:ATATATATA:ATATATATATA,NC_000002.12:176181849:ATATATATA:ATATATATATATA
Gene:: HAGLR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.176181851TA[1], NC_000002.12:g.176181851TA[3], NC_000002.12:g.176181851TA[5], NC_000002.12:g.176181851TA[6], NC_000002.11:g.177046579TA[1], NC_000002.11:g.177046579TA[3], NC_000002.11:g.177046579TA[5], NC_000002.11:g.177046579TA[6]

Select item 14910659114.

rs1491065911 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:176180831 (GRCh38)
2:177045559 (GRCh37)
Canonical SPDI:: NC_000002.12:176180830:TA:
Gene:: HAGLR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000072/10 (GnomAD)
HGVS:: NC_000002.12:g.176180831_176180832del, NC_000002.11:g.177045559_177045560del

Select item 14909196415.

rs1490919641 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGCACAGG>- [Show Flanks]
Chromosome:: 2:176179952 (GRCh38)
2:177044680 (GRCh37)
Canonical SPDI:: NC_000002.12:176179948:AGGTTGCACAGG:AGG
Gene:: HAGLR (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176179952_176179960del, NC_000002.11:g.177044680_177044688del

Select item 14907512906.

rs1490751290 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:176177708 (GRCh38)
2:177042436 (GRCh37)
Canonical SPDI:: NC_000002.12:176177707:T:C
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.176177708T>C, NC_000002.11:g.177042436T>C

Select item 14906180807.

rs1490618080 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCCCTGCCGCCTGCC [Show Flanks]
Chromosome:: 2:176178643 (GRCh38)
2:177043372 (GRCh37)
Canonical SPDI:: NC_000002.12:176178643:GCCAGCCCTGCCGCCTGCC:GCCAGCCCTGCCGCCTGCCAGCCCTGCCGCCTGCC
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCAGCCCTGCCGCCTGCCAGCCCTGCCGCCTGCC=0./0 (ALFA)
GCCAGCCCTGCCGCCT=0.000004/1 (TOPMED)
GCCAGCCCTGCCGCCT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176178647_176178662dup, NC_000002.11:g.177043375_177043390dup, NR_110457.1:n.311_326dup

Select item 14903653118.

rs1490365311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176177932 (GRCh38)
2:177042660 (GRCh37)
Canonical SPDI:: NC_000002.12:176177931:C:T
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000002.12:g.176177932C>T, NC_000002.11:g.177042660C>T, NR_110458.1:n.198G>A, NR_110462.1:n.198G>A

Select item 14903536609.

rs1490353660 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:176186246 (GRCh38)
2:177050975 (GRCh37)
Canonical SPDI:: NC_000002.12:176186246:CCCC:CCCCC
Gene:: HAGLR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.176186250dup, NC_000002.11:g.177050978dup

Select item 149031677210.

rs1490316772 [Homo sapiens]

Variant type:: DEL
Alleles:: AGGC>- [Show Flanks]
Chromosome:: 2:176176936 (GRCh38)
2:177041664 (GRCh37)
Canonical SPDI:: NC_000002.12:176176935:AGGC:
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.176176936_176176939del, NC_000002.11:g.177041664_177041667del

Select item 149025867811.

rs1490258678 has merged into rs59862521 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:176177089 (GRCh38)
2:177041817 (GRCh37)
Canonical SPDI:: NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:176177077:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAA=0.3674/1840 (1000Genomes)
HGVS:: NC_000002.12:g.176177089_176177102del, NC_000002.12:g.176177091_176177102del, NC_000002.12:g.176177092_176177102del, NC_000002.12:g.176177093_176177102del, NC_000002.12:g.176177094_176177102del, NC_000002.12:g.176177095_176177102del, NC_000002.12:g.176177096_176177102del, NC_000002.12:g.176177097_176177102del, NC_000002.12:g.176177098_176177102del, NC_000002.12:g.176177099_176177102del, NC_000002.12:g.176177100_176177102del, NC_000002.12:g.176177101_176177102del, NC_000002.12:g.176177102del, NC_000002.12:g.176177102dup, NC_000002.12:g.176177101_176177102dup, NC_000002.12:g.176177100_176177102dup, NC_000002.12:g.176177099_176177102dup, NC_000002.12:g.176177098_176177102dup, NC_000002.12:g.176177096_176177102dup, NC_000002.12:g.176177095_176177102dup, NC_000002.12:g.176177083_176177102dup, NC_000002.12:g.176177078_176177102dup, NC_000002.12:g.176177102_176177103insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.177041817_177041830del, NC_000002.11:g.177041819_177041830del, NC_000002.11:g.177041820_177041830del, NC_000002.11:g.177041821_177041830del, NC_000002.11:g.177041822_177041830del, NC_000002.11:g.177041823_177041830del, NC_000002.11:g.177041824_177041830del, NC_000002.11:g.177041825_177041830del, NC_000002.11:g.177041826_177041830del, NC_000002.11:g.177041827_177041830del, NC_000002.11:g.177041828_177041830del, NC_000002.11:g.177041829_177041830del, NC_000002.11:g.177041830del, NC_000002.11:g.177041830dup, NC_000002.11:g.177041829_177041830dup, NC_000002.11:g.177041828_177041830dup, NC_000002.11:g.177041827_177041830dup, NC_000002.11:g.177041826_177041830dup, NC_000002.11:g.177041824_177041830dup, NC_000002.11:g.177041823_177041830dup, NC_000002.11:g.177041811_177041830dup, NC_000002.11:g.177041806_177041830dup, NC_000002.11:g.177041830_177041831insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149021387912.

rs1490213879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:176176049 (GRCh38)
2:177040777 (GRCh37)
Canonical SPDI:: NC_000002.12:176176048:A:G
Gene:: HAGLR (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.176176049A>G, NC_000002.11:g.177040777A>G, NR_033979.2:n.952T>C, NR_033979.1:n.952T>C, NR_110458.1:n.1226T>C, NR_110459.1:n.1177T>C, NR_110460.1:n.1147T>C, NR_110461.1:n.1082T>C, NR_110462.1:n.1063T>C, NR_110463.1:n.1045T>C, NR_110464.1:n.1033T>C, NR_110465.1:n.1031T>C, NR_110466.1:n.961T>C, NR_110467.1:n.934T>C, NR_110468.1:n.922T>C

Select item 149006137213.

rs1490061372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:176185222 (GRCh38)
2:177049950 (GRCh37)
Canonical SPDI:: NC_000002.12:176185221:A:G
Gene:: HAGLR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.176185222A>G, NC_000002.11:g.177049950A>G

Select item 148981197914.

rs1489811979 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:176175900 (GRCh38)
2:177040628 (GRCh37)
Canonical SPDI:: NC_000002.12:176175899:A:G
Gene:: HAGLR (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.176175900A>G, NC_000002.11:g.177040628A>G, NR_033979.2:n.1101T>C, NR_033979.1:n.1101T>C, NR_110458.1:n.1375T>C, NR_110459.1:n.1326T>C, NR_110460.1:n.1296T>C, NR_110461.1:n.1231T>C, NR_110462.1:n.1212T>C, NR_110463.1:n.1194T>C, NR_110464.1:n.1182T>C, NR_110465.1:n.1180T>C, NR_110466.1:n.1110T>C, NR_110467.1:n.1083T>C, NR_110468.1:n.1071T>C

Select item 148977263515.

rs1489772635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176188713 (GRCh38)
2:177053441 (GRCh37)
Canonical SPDI:: NC_000002.12:176188712:C:T
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000036/5 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.176188713C>T, NC_000002.11:g.177053441C>T, NM_024501.3:c.-89C>T, NM_024501.2:c.-89C>T, XM_047444086.1:c.-89C>T

Select item 148963543816.

rs1489635438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:176189238 (GRCh38)
2:177053966 (GRCh37)
Canonical SPDI:: NC_000002.12:176189237:T:A
Gene:: HOXD1 (Varview), HAGLR (Varview), MIR7704 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.176189238T>A, NC_000002.11:g.177053966T>A, NM_024501.3:c.437T>A, NM_024501.2:c.437T>A, XM_047444086.1:c.437T>A, NP_078777.1:p.Phe146Tyr, XP_047300042.1:p.Phe146Tyr

Select item 148955269517.

rs1489552695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176182531 (GRCh38)
2:177047259 (GRCh37)
Canonical SPDI:: NC_000002.12:176182530:C:T
Gene:: HAGLR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.176182531C>T, NC_000002.11:g.177047259C>T

Select item 148948379318.

rs1489483793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:176179812 (GRCh38)
2:177044540 (GRCh37)
Canonical SPDI:: NC_000002.12:176179811:C:A,NC_000002.12:176179811:C:T
Gene:: HAGLR (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.176179812C>A, NC_000002.12:g.176179812C>T, NC_000002.11:g.177044540C>A, NC_000002.11:g.177044540C>T

Select item 148942596019.

rs1489425960 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:176175685 (GRCh38)
2:177040413 (GRCh37)
Canonical SPDI:: NC_000002.12:176175684:A:G
Gene:: HAGLR (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176175685A>G, NC_000002.11:g.177040413A>G, NR_033979.2:n.1316T>C, NR_033979.1:n.1316T>C, NR_110458.1:n.1590T>C, NR_110459.1:n.1541T>C, NR_110460.1:n.1511T>C, NR_110461.1:n.1446T>C, NR_110462.1:n.1427T>C, NR_110463.1:n.1409T>C, NR_110464.1:n.1397T>C, NR_110465.1:n.1395T>C, NR_110466.1:n.1325T>C, NR_110467.1:n.1298T>C, NR_110468.1:n.1286T>C

Select item 148942289020.

rs1489422890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:176178629 (GRCh38)
2:177043357 (GRCh37)
Canonical SPDI:: NC_000002.12:176178628:C:G,NC_000002.12:176178628:C:T
Gene:: HAGLR (Varview), HAGLROS (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176178629C>G, NC_000002.12:g.176178629C>T, NC_000002.11:g.177043357C>G, NC_000002.11:g.177043357C>T, NR_110457.1:n.293C>G, NR_110457.1:n.293C>T

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