SNP Links for Gene (Select 119032) - SNP

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Select item 14913970291.

rs1491397029 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 10:102859148 (GRCh38)
10:104618906 (GRCh37)
Canonical SPDI:: NC_000010.11:102859148:TTT:TTTCTTT
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.00008/4 (GnomAD)
HGVS:: NC_000010.11:g.102859151_102859152insCTTT, NC_000010.10:g.104618908_104618909insCTTT

Select item 14913448812.

rs1491344881 has merged into rs67657945 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:102859152 (GRCh38)
10:104618909 (GRCh37)
Canonical SPDI:: NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTT,NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:102859147:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.233221/139 (NorthernSweden)
-=0.342242/1319 (ALSPAC)
-=0.343042/1272 (TWINSUK)
-=0.41254/2066 (1000Genomes)
HGVS:: NC_000010.11:g.102859152_102859161del, NC_000010.11:g.102859159_102859161del, NC_000010.11:g.102859160_102859161del, NC_000010.11:g.102859161del, NC_000010.11:g.102859161dup, NC_000010.11:g.102859160_102859161dup, NC_000010.11:g.102859157_102859161dup, NC_000010.11:g.102859153_102859161dup, NC_000010.10:g.104618909_104618918del, NC_000010.10:g.104618916_104618918del, NC_000010.10:g.104618917_104618918del, NC_000010.10:g.104618918del, NC_000010.10:g.104618918dup, NC_000010.10:g.104618917_104618918dup, NC_000010.10:g.104618914_104618918dup, NC_000010.10:g.104618910_104618918dup

Select item 14912788283.

rs1491278828 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:102858165 (GRCh38)
10:104617923 (GRCh37)
Canonical SPDI:: NC_000010.11:102858165::C
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.102858165_102858166insC, NC_000010.10:g.104617922_104617923insC

Select item 14911222514.

rs1491122251 has merged into rs778132309 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:102858172 (GRCh38)
10:104617929 (GRCh37)
Canonical SPDI:: NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:102858164:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AA=0.275/11 (GENOME_DK)
HGVS:: NC_000010.11:g.102858172_102858177del, NC_000010.11:g.102858174_102858177del, NC_000010.11:g.102858176_102858177del, NC_000010.11:g.102858177del, NC_000010.11:g.102858177dup, NC_000010.11:g.102858176_102858177dup, NC_000010.11:g.102858175_102858177dup, NC_000010.11:g.102858174_102858177dup, NC_000010.11:g.102858173_102858177dup, NC_000010.11:g.102858172_102858177dup, NC_000010.10:g.104617929_104617934del, NC_000010.10:g.104617931_104617934del, NC_000010.10:g.104617933_104617934del, NC_000010.10:g.104617934del, NC_000010.10:g.104617934dup, NC_000010.10:g.104617933_104617934dup, NC_000010.10:g.104617932_104617934dup, NC_000010.10:g.104617931_104617934dup, NC_000010.10:g.104617930_104617934dup, NC_000010.10:g.104617929_104617934dup

Select item 14910963265.

rs1491096326 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:102863349 (GRCh38)
10:104623106 (GRCh37)
Canonical SPDI:: NC_000010.11:102863347:AGA:A
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
-=0.000142/2 (TOMMO)
-=0.000156/1 (1000Genomes)
-=0.000286/39 (GnomAD)
-=0.003821/7 (Korea1K)
HGVS:: NC_000010.11:g.102863349_102863350del, NC_000010.10:g.104623106_104623107del, NM_001136200.2:c.*425_*426del, NM_001136200.1:c.*425_*426del

Select item 14909587086.

rs1490958708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:102860087 (GRCh38)
10:104619844 (GRCh37)
Canonical SPDI:: NC_000010.11:102860086:T:C
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_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_000010.11:g.102860087T>C, NC_000010.10:g.104619844T>C

Select item 14908029497.

rs1490802949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102863118 (GRCh38)
10:104622875 (GRCh37)
Canonical SPDI:: NC_000010.11:102863117:G:A
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000446/2 (Estonian)
HGVS:: NC_000010.11:g.102863118G>A, NC_000010.10:g.104622875G>A, NM_001136200.2:c.*194G>A, NM_001136200.1:c.*194G>A

Select item 14907932708.

rs1490793270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:102860967 (GRCh38)
10:104620724 (GRCh37)
Canonical SPDI:: NC_000010.11:102860966:T:G
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_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_000010.11:g.102860967T>G, NC_000010.10:g.104620724T>G

Select item 14905904979.

rs1490590497 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAT>- [Show Flanks]
Chromosome:: 10:102854921 (GRCh38)
10:104614678 (GRCh37)
Canonical SPDI:: NC_000010.11:102854918:ATAAT:AT
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102854921_102854923del, NC_000010.10:g.104614678_104614680del

Select item 149010119710.

rs1490101197 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCC [Show Flanks]
Chromosome:: 10:102855241 (GRCh38)
10:104614999 (GRCh37)
Canonical SPDI:: NC_000010.11:102855241:TCC:TCCTCC
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCTCC=0./0 (ALFA)
TCC=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.102855242_102855244dup, NC_000010.10:g.104614999_104615001dup

Select item 149000565011.

rs1490005650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:102862435 (GRCh38)
10:104622192 (GRCh37)
Canonical SPDI:: NC_000010.11:102862434:C:A
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.102862435C>A, NC_000010.10:g.104622192C>A

Select item 148941997112.

rs1489419971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:102855694 (GRCh38)
10:104615451 (GRCh37)
Canonical SPDI:: NC_000010.11:102855693:T:G
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_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_000010.11:g.102855694T>G, NC_000010.10:g.104615451T>G

Select item 148937173513.

rs1489371735 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:102854398 (GRCh38)
10:104614155 (GRCh37)
Canonical SPDI:: NC_000010.11:102854397:C:A,NC_000010.11:102854397:C:T
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.102854398C>A, NC_000010.11:g.102854398C>T, NC_000010.10:g.104614155C>A, NC_000010.10:g.104614155C>T, NM_144591.5:c.112C>A, NM_144591.5:c.112C>T, NM_144591.4:c.112C>A, NM_144591.4:c.112C>T, NM_144591.3:c.112C>A, NM_144591.3:c.112C>T, NM_001136200.2:c.112C>A, NM_001136200.2:c.112C>T, NM_001136200.1:c.112C>A, NM_001136200.1:c.112C>T, NR_037644.1:n.189C>A, NR_037644.1:n.189C>T, NP_653192.2:p.Gln38Lys, NP_653192.2:p.Gln38Ter, NP_001129672.1:p.Gln38Lys, NP_001129672.1:p.Gln38Ter

Select item 148931934414.

rs1489319344 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 10:102854904 (GRCh38)
10:104614661 (GRCh37)
Canonical SPDI:: NC_000010.11:102854903:AC:
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102854904_102854905del, NC_000010.10:g.104614661_104614662del

Select item 148925095415.

rs1489250954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:102863585 (GRCh38)
10:104623342 (GRCh37)
Canonical SPDI:: NC_000010.11:102863584:T:A
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.102863585T>A, NC_000010.10:g.104623342T>A, NM_001136200.2:c.*661T>A, NM_001136200.1:c.*661T>A

Select item 148901374416.

rs1489013744 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:102855821 (GRCh38)
10:104615578 (GRCh37)
Canonical SPDI:: NC_000010.11:102855820:C:G
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_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_000010.11:g.102855821C>G, NC_000010.10:g.104615578C>G

Select item 148897331017.

rs1488973310 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAGAGA>- [Show Flanks]
Chromosome:: 10:102858190 (GRCh38)
10:104617947 (GRCh37)
Canonical SPDI:: NC_000010.11:102858188:ATAGAGA:A
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.04047/480 (ALFA)
-=0.00501/486 (GnomAD)
-=0.01473/246 (TOMMO)
HGVS:: NC_000010.11:g.102858190_102858195del, NC_000010.10:g.104617947_104617952del

Select item 148892523018.

rs1488925230 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:102858196 (GRCh38)
10:104617953 (GRCh37)
Canonical SPDI:: NC_000010.11:102858195:G:C,NC_000010.11:102858195:G:T
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.102858196G>C, NC_000010.11:g.102858196G>T, NC_000010.10:g.104617953G>C, NC_000010.10:g.104617953G>T

Select item 148862183219.

rs1488621832 [Homo sapiens]

Variant type:: DEL
Alleles:: TTTTTTTTTTTTT>- [Show Flanks]
Chromosome:: 10:102859571 (GRCh38)
10:104619328 (GRCh37)
Canonical SPDI:: NC_000010.11:102859570:TTTTTTTTTTTTT:
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000589/74 (GnomAD)
-=0.031589/529 (TOMMO)
-=0.037705/69 (Korea1K)
HGVS:: NC_000010.11:g.102859571_102859583del, NC_000010.10:g.104619328_104619340del

Select item 148844011520.

rs1488440115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:102856082 (GRCh38)
10:104615839 (GRCh37)
Canonical SPDI:: NC_000010.11:102856081:A:G
Gene:: BORCS7 (Varview), BORCS7-ASMT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.102856082A>G, NC_000010.10:g.104615839A>G

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