SNP Links for Gene (Select 3234) - SNP

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Select item 14913101781.

rs1491310178 has merged into rs3835104 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 2:176131186 (GRCh38)
2:176995914 (GRCh37)
Canonical SPDI:: NC_000002.12:176131174:TATATATATATAT:TATATATATAT,NC_000002.12:176131174:TATATATATATAT:TATATATATATATAT,NC_000002.12:176131174:TATATATATATAT:TATATATATATATATAT,NC_000002.12:176131174:TATATATATATAT:TATATATATATATATATAT
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.31749/581 (Korea1K)
-=0.32232/1444 (Estonian)
TA=0.33329/5584 (TOMMO)
-=0.37/222 (NorthernSweden)
-=0.4/16 (GENOME_DK)
TA=0.4371/2189 (1000Genomes)
HGVS:: NC_000002.12:g.176131176AT[5], NC_000002.12:g.176131176AT[7], NC_000002.12:g.176131176AT[8], NC_000002.12:g.176131176AT[9], NC_000002.11:g.176995904AT[5], NC_000002.11:g.176995904AT[7], NC_000002.11:g.176995904AT[8], NC_000002.11:g.176995904AT[9]

Select item 14912287452.

rs1491228745 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:176132802 (GRCh38)
2:176997530 (GRCh37)
Canonical SPDI:: NC_000002.12:176132801:AG:
Gene:: HOXD8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176132802_176132803del, NC_000002.11:g.176997530_176997531del

Select item 14911543783.

rs1491154378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGGTGGGGTTACAC [Show Flanks]
Chromosome:: 2:176132802 (GRCh38)
2:176997531 (GRCh37)
Canonical SPDI:: NC_000002.12:176132802:GGGGTGGGGTTACAC:GGGGTGGGGTTACACGGGGTGGGGTTACAC
Gene:: HOXD8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGTGGGGTTACACGGGGTGGGGTTACAC=0./0 (ALFA)
GGGGTGGGGTTACAC=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176132803_176132817dup, NC_000002.11:g.176997531_176997545dup

Select item 14911373204.

rs1491137320 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:176127715 (GRCh38)
2:176992443 (GRCh37)
Canonical SPDI:: NC_000002.12:176127714:TC:
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.176127715_176127716del, NC_000002.11:g.176992443_176992444del

Select item 14904574835.

rs1490457483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:176132383 (GRCh38)
2:176997111 (GRCh37)
Canonical SPDI:: NC_000002.12:176132382:T:G
Gene:: HOXD8 (Varview)
Functional Consequence:: 3_prime_UTR_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_000002.12:g.176132383T>G, NC_000002.11:g.176997111T>G, NM_019558.4:c.*771T>G, NM_019558.3:c.*771T>G, NM_001199746.2:c.*771T>G, NM_001199746.1:c.*771T>G, NM_001199747.2:c.*771T>G, NM_001199747.1:c.*771T>G

Select item 14904319566.

rs1490431956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176132509 (GRCh38)
2:176997237 (GRCh37)
Canonical SPDI:: NC_000002.12:176132508:C:T
Gene:: HOXD8 (Varview)
Functional Consequence:: 3_prime_UTR_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.176132509C>T, NC_000002.11:g.176997237C>T, NM_019558.4:c.*897C>T, NM_019558.3:c.*897C>T, NM_001199746.2:c.*897C>T, NM_001199746.1:c.*897C>T, NM_001199747.2:c.*897C>T, NM_001199747.1:c.*897C>T

Select item 14901291687.

rs1490129168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:176131055 (GRCh38)
2:176995783 (GRCh37)
Canonical SPDI:: NC_000002.12:176131054:G:T
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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.176131055G>T, NC_000002.11:g.176995783G>T

Select item 14901042148.

rs1490104214 has merged into rs201637028 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AA,AAAA [Show Flanks]
Chromosome:: 2:176132027 (GRCh38)
2:176996755 (GRCh37)
Canonical SPDI:: NC_000002.12:176132021:AAAAAAAA:AAAAA,NC_000002.12:176132021:AAAAAAAA:AAAAAAA,NC_000002.12:176132021:AAAAAAAA:AAAAAAAAA
Gene:: HOXD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00055/1 (Korea1K)
-=0.0006/10 (TOMMO)
-=0.00268/12 (Estonian)
-=0.00333/2 (NorthernSweden)
-=0.00599/30 (1000Genomes)
-=0.00701/7 (GoNL)
HGVS:: NC_000002.12:g.176132027_176132029del, NC_000002.12:g.176132029del, NC_000002.12:g.176132029dup, NC_000002.11:g.176996755_176996757del, NC_000002.11:g.176996757del, NC_000002.11:g.176996757dup, NM_019558.4:c.*415_*417del, NM_019558.4:c.*417del, NM_019558.4:c.*417dup, NM_019558.3:c.*415_*417del, NM_019558.3:c.*417del, NM_019558.3:c.*417dup, NM_001199746.2:c.*415_*417del, NM_001199746.2:c.*417del, NM_001199746.2:c.*417dup, NM_001199746.1:c.*415_*417del, NM_001199746.1:c.*417del, NM_001199746.1:c.*417dup, NM_001199747.2:c.*415_*417del, NM_001199747.2:c.*417del, NM_001199747.2:c.*417dup, NM_001199747.1:c.*415_*417del, NM_001199747.1:c.*417del, NM_001199747.1:c.*417dup

Select item 14899902759.

rs1489990275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176130243 (GRCh38)
2:176994971 (GRCh37)
Canonical SPDI:: NC_000002.12:176130242:C:T
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000038/10 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.176130243C>T, NC_000002.11:g.176994971C>T, NM_019558.4:c.-124C>T, NM_019558.3:c.-124C>T, NM_001199746.2:c.-124C>T, NM_001199746.1:c.-124C>T

Select item 148996556710.

rs1489965567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176130719 (GRCh38)
2:176995447 (GRCh37)
Canonical SPDI:: NC_000002.12:176130718:C:T
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.176130719C>T, NC_000002.11:g.176995447C>T, NM_019558.4:c.353C>T, NM_019558.3:c.353C>T, NM_001199746.2:c.353C>T, NM_001199746.1:c.353C>T, NP_062458.1:p.Pro118Leu, NP_001186675.1:p.Pro118Leu

Select item 148973433811.

rs1489734338 has merged into rs770632206 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC [Show Flanks]
Chromosome:: 2:176130689 (GRCh38)
2:176995417 (GRCh37)
Canonical SPDI:: NC_000002.12:176130688:CCCCCCC:CCCCCC,NC_000002.12:176130688:CCCCCCC:CCCCCCCC,NC_000002.12:176130688:CCCCCCC:CCCCCCCCC
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0.000054/1 (ALFA)
CC=0.000005/1 (GnomAD_exomes)
-=0.000035/1 (TOMMO)
-=0.000223/1 (Estonian)
-=0.002772/30 (GoESP)
HGVS:: NC_000002.12:g.176130695del, NC_000002.12:g.176130695dup, NC_000002.12:g.176130694_176130695dup, NC_000002.11:g.176995423del, NC_000002.11:g.176995423dup, NC_000002.11:g.176995422_176995423dup, NM_019558.4:c.329del, NM_019558.4:c.329dup, NM_019558.4:c.328_329dup, NM_019558.3:c.329del, NM_019558.3:c.329dup, NM_019558.3:c.328_329dup, NM_001199746.2:c.329del, NM_001199746.2:c.329dup, NM_001199746.2:c.328_329dup, NM_001199746.1:c.329del, NM_001199746.1:c.329dup, NM_001199746.1:c.328_329dup, NP_062458.1:p.Pro110fs, NP_062458.1:p.Pro111fs, NP_062458.1:p.Pro111fs, NP_001186675.1:p.Pro110fs, NP_001186675.1:p.Pro111fs, NP_001186675.1:p.Pro111fs

Select item 148957701212.

rs1489577012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:176128506 (GRCh38)
2:176993234 (GRCh37)
Canonical SPDI:: NC_000002.12:176128505:G:C
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.176128506G>C, NC_000002.11:g.176993234G>C, XR_241351.6:n.684C>G, XR_241351.5:n.994C>G, XR_241351.4:n.1126C>G, XR_241351.3:n.1126C>G, XR_241351.2:n.1126C>G, XR_241351.1:n.1126C>G

Select item 148839582113.

rs1488395821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:176127798 (GRCh38)
2:176992526 (GRCh37)
Canonical SPDI:: NC_000002.12:176127797:A:G
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.176127798A>G, NC_000002.11:g.176992526A>G

Select item 148819671814.

rs1488196718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:176129989 (GRCh38)
2:176994717 (GRCh37)
Canonical SPDI:: NC_000002.12:176129988:A:C
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_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.176129989A>C, NC_000002.11:g.176994717A>C, NM_019558.4:c.-378A>C, NM_019558.3:c.-378A>C, NM_001199746.2:c.-378A>C, NM_001199746.1:c.-378A>C

Select item 148810058715.

rs1488100587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:176132525 (GRCh38)
2:176997253 (GRCh37)
Canonical SPDI:: NC_000002.12:176132524:G:C
Gene:: HOXD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.176132525G>C, NC_000002.11:g.176997253G>C, NM_019558.4:c.*913G>C, NM_019558.3:c.*913G>C, NM_001199746.2:c.*913G>C, NM_001199746.1:c.*913G>C, NM_001199747.2:c.*913G>C, NM_001199747.1:c.*913G>C

Select item 148798487816.

rs1487984878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176128915 (GRCh38)
2:176993643 (GRCh37)
Canonical SPDI:: NC_000002.12:176128914:C:T
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.176128915C>T, NC_000002.11:g.176993643C>T, XR_241351.6:n.275G>A, XR_241351.5:n.585G>A, XR_241351.4:n.717G>A, XR_241351.3:n.717G>A, XR_241351.2:n.717G>A, XR_241351.1:n.717G>A

Select item 148787005917.

rs1487870059 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:176131480 (GRCh38)
2:176996208 (GRCh37)
Canonical SPDI:: NC_000002.12:176131479:C:T
Gene:: HOXD8 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.176131480C>T, NC_000002.11:g.176996208C>T, NM_019558.4:c.741C>T, NM_019558.3:c.741C>T, NM_001199746.2:c.738C>T, NM_001199746.1:c.738C>T, NM_001199747.2:c.189C>T, NM_001199747.1:c.189C>T

Select item 148679089018.

rs1486790890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:176130001 (GRCh38)
2:176994729 (GRCh37)
Canonical SPDI:: NC_000002.12:176130000:G:C
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.176130001G>C, NC_000002.11:g.176994729G>C, NM_019558.4:c.-366G>C, NM_019558.3:c.-366G>C, NM_001199746.2:c.-366G>C, NM_001199746.1:c.-366G>C

Select item 148674068319.

rs1486740683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:176131920 (GRCh38)
2:176996648 (GRCh37)
Canonical SPDI:: NC_000002.12:176131919:A:G
Gene:: HOXD8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.176131920A>G, NC_000002.11:g.176996648A>G, NM_019558.4:c.*308A>G, NM_019558.3:c.*308A>G, NM_001199746.2:c.*308A>G, NM_001199746.1:c.*308A>G, NM_001199747.2:c.*308A>G, NM_001199747.1:c.*308A>G

Select item 148658510920.

rs1486585109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:176129597 (GRCh38)
2:176994325 (GRCh37)
Canonical SPDI:: NC_000002.12:176129596:C:A
Gene:: HOXD8 (Varview), LOC100129455 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.176129597C>A, NC_000002.11:g.176994325C>A

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