SNP Links for Gene (Select 79411) - SNP

Links from Gene

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Select item 14912583811.

rs1491258381 has merged into rs1212111892 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 2:219241453 (GRCh38)
2:220106175 (GRCh37)
Canonical SPDI:: NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000002.12:219241442:TATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA
Gene:: GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.219241443TA[5], NC_000002.12:g.219241443TA[6], NC_000002.12:g.219241443TA[7], NC_000002.12:g.219241443TA[8], NC_000002.12:g.219241443TA[9], NC_000002.12:g.219241443TA[10], NC_000002.12:g.219241443TA[11], NC_000002.12:g.219241443TA[13], NC_000002.12:g.219241443TA[14], NC_000002.12:g.219241443TA[15], NC_000002.12:g.219241443TA[16], NC_000002.12:g.219241443TA[17], NC_000002.12:g.219241443TA[18], NC_000002.12:g.219241443TA[19], NC_000002.12:g.219241443TA[20], NC_000002.12:g.219241443TA[21], NC_000002.12:g.219241443TA[22], NC_000002.12:g.219241443TA[23], NC_000002.11:g.220106165TA[5], NC_000002.11:g.220106165TA[6], NC_000002.11:g.220106165TA[7], NC_000002.11:g.220106165TA[8], NC_000002.11:g.220106165TA[9], NC_000002.11:g.220106165TA[10], NC_000002.11:g.220106165TA[11], NC_000002.11:g.220106165TA[13], NC_000002.11:g.220106165TA[14], NC_000002.11:g.220106165TA[15], NC_000002.11:g.220106165TA[16], NC_000002.11:g.220106165TA[17], NC_000002.11:g.220106165TA[18], NC_000002.11:g.220106165TA[19], NC_000002.11:g.220106165TA[20], NC_000002.11:g.220106165TA[21], NC_000002.11:g.220106165TA[22], NC_000002.11:g.220106165TA[23]

Select item 14912258232.

rs1491225823 [Homo sapiens]

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

Select item 14910381783.

rs1491038178 has merged into rs745647003 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:219241430 (GRCh38)
2:220106152 (GRCh37)
Canonical SPDI:: NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:219241412:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.01024/6 (NorthernSweden)
HGVS:: NC_000002.12:g.219241414GT[8], NC_000002.12:g.219241414GT[9], NC_000002.12:g.219241414GT[10], NC_000002.12:g.219241414GT[11], NC_000002.12:g.219241414GT[12], NC_000002.12:g.219241414GT[13], NC_000002.12:g.219241414GT[14], NC_000002.12:g.219241414GT[16], NC_000002.12:g.219241414GT[17], NC_000002.12:g.219241414GT[18], NC_000002.11:g.220106136GT[8], NC_000002.11:g.220106136GT[9], NC_000002.11:g.220106136GT[10], NC_000002.11:g.220106136GT[11], NC_000002.11:g.220106136GT[12], NC_000002.11:g.220106136GT[13], NC_000002.11:g.220106136GT[14], NC_000002.11:g.220106136GT[16], NC_000002.11:g.220106136GT[17], NC_000002.11:g.220106136GT[18]

Select item 14909144014.

rs1490914401 [Homo sapiens]

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

Select item 14903720605.

rs1490372060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:219241751 (GRCh38)
2:220106473 (GRCh37)
Canonical SPDI:: NC_000002.12:219241750:G:C
Gene:: GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.219241751G>C, NC_000002.11:g.220106473G>C

Select item 14902995016.

rs1490299501 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219245828 (GRCh38)
2:220110550 (GRCh37)
Canonical SPDI:: NC_000002.12:219245827:C:T
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219245828C>T, NC_000002.11:g.220110550C>T

Select item 14902838557.

rs1490283855 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:219244857 (GRCh38)
2:220109579 (GRCh37)
Canonical SPDI:: NC_000002.12:219244856:C:A,NC_000002.12:219244856:C:T
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219244857C>A, NC_000002.12:g.219244857C>T, NC_000002.11:g.220109579C>A, NC_000002.11:g.220109579C>T

Select item 14899198008.

rs1489919800 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:219237433 (GRCh38)
2:220102155 (GRCh37)
Canonical SPDI:: NC_000002.12:219237430:AGAG:AG
Gene:: GLB1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.219237431AG[1], NC_000002.11:g.220102153AG[1]

Select item 14897929999.

rs1489792999 has merged into rs999944494 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAA>-,CAAACAAA [Show Flanks]
Chromosome:: 2:219244163 (GRCh38)
2:220108885 (GRCh37)
Canonical SPDI:: NC_000002.12:219244149:ACAAACAAACAAACAAA:ACAAACAAACAAA,NC_000002.12:219244149:ACAAACAAACAAACAAA:ACAAACAAACAAACAAACAAA
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAAACAAACAAACAAACAAA=0.00011/2 (ALFA)
ACAA=0.00011/2 (TOMMO)
ACAA=0.00045/2 (Estonian)
HGVS:: NC_000002.12:g.219244151CAAA[3], NC_000002.12:g.219244151CAAA[5], NC_000002.11:g.220108873CAAA[3], NC_000002.11:g.220108873CAAA[5]

Select item 148957305210.

rs1489573052 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAAA>- [Show Flanks]
Chromosome:: 2:219244167 (GRCh38)
2:220108889 (GRCh37)
Canonical SPDI:: NC_000002.12:219244163:AAAAGAAA:AAA
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000002.12:g.219244167_219244171del, NC_000002.11:g.220108889_220108893del

Select item 148927223911.

rs1489272239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:219246835 (GRCh38)
2:220111557 (GRCh37)
Canonical SPDI:: NC_000002.12:219246834:G:A,NC_000002.12:219246834:G:C
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.219246835G>A, NC_000002.12:g.219246835G>C, NC_000002.11:g.220111557G>A, NC_000002.11:g.220111557G>C, NM_001008910.4:c.265G>A, NM_001008910.4:c.265G>C, NM_001008910.3:c.265G>A, NM_001008910.3:c.265G>C, NM_001008910.2:c.265G>A, NM_001008910.2:c.265G>C, NM_001330213.2:c.265G>A, NM_001330213.2:c.265G>C, NM_001330213.1:c.265G>A, NM_001330213.1:c.265G>C, XM_024453195.2:c.265G>A, XM_024453195.2:c.265G>C, XM_024453195.1:c.265G>A, XM_024453195.1:c.265G>C, NM_003691.2:c.265G>A, NM_003691.2:c.265G>C, NR_026909.1:n.687G>A, NR_026909.1:n.687G>C, XM_047446140.1:c.265G>A, XM_047446140.1:c.265G>C, NM_001330214.1:c.265G>A, NM_001330214.1:c.265G>C, XM_047446141.1:c.-10G>A, XM_047446141.1:c.-10G>C, NM_003691.1:c.265G>A, NM_003691.1:c.265G>C, NP_001008910.1:p.Gly89Ser, NP_001008910.1:p.Gly89Arg, NP_001317142.1:p.Gly89Ser, NP_001317142.1:p.Gly89Arg, XP_024308963.1:p.Gly89Ser, XP_024308963.1:p.Gly89Arg, XP_047302096.1:p.Gly89Ser, XP_047302096.1:p.Gly89Arg, NP_001317143.1:p.Gly89Ser, NP_001317143.1:p.Gly89Arg

Select item 148923022112.

rs1489230221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:219237064 (GRCh38)
2:220101786 (GRCh37)
Canonical SPDI:: NC_000002.12:219237063:C:A
Gene:: ANKZF1 (Varview), GLB1L (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.219237064C>A, NC_000002.11:g.220101786C>A, NM_024506.5:c.*8G>T, NM_024506.4:c.*8G>T, NM_024506.3:c.*8G>T, XM_024453137.2:c.*8G>T, XM_024453137.1:c.*8G>T, XM_024453138.2:c.*8G>T, XM_024453138.1:c.*8G>T, NM_001286423.2:c.*8G>T, NM_001286423.1:c.*8G>T, XM_017004895.2:c.*8G>T, XM_017004895.1:c.*8G>T, XM_047445814.1:c.*8G>T, XM_047445815.1:c.*8G>T, NM_001286427.1:c.*8G>T, XM_047445816.1:c.*8G>T

Select item 148914101313.

rs1489141013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219245387 (GRCh38)
2:220110109 (GRCh37)
Canonical SPDI:: NC_000002.12:219245386:G:A
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.219245387G>A, NC_000002.11:g.220110109G>A, NM_024506.5:c.-217C>T, NM_024506.4:c.-217C>T, NM_024506.3:c.-217C>T, XM_024453137.2:c.-528C>T, XM_024453137.1:c.-528C>T, XM_024453138.2:c.-528C>T, XM_024453138.1:c.-528C>T, NM_001286423.2:c.-229C>T, NM_001286423.1:c.-229C>T, XM_017004895.2:c.-217C>T, XM_017004895.1:c.-217C>T, XM_047445814.1:c.-381C>T, XM_047445815.1:c.-229C>T

Select item 148904047614.

rs1489040476 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:219245018 (GRCh38)
2:220109740 (GRCh37)
Canonical SPDI:: NC_000002.12:219245017:A:C
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_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.219245018A>C, NC_000002.11:g.220109740A>C

Select item 148903925615.

rs1489039256 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219246310 (GRCh38)
2:220111032 (GRCh37)
Canonical SPDI:: NC_000002.12:219246309:T:C
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.219246310T>C, NC_000002.11:g.220111032T>C

Select item 148875227416.

rs1488752274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:219247011 (GRCh38)
2:220111733 (GRCh37)
Canonical SPDI:: NC_000002.12:219247010:G:A
Gene:: STK16 (Varview), GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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.219247011G>A, NC_000002.11:g.220111733G>A

Select item 148863992917.

rs1488639929 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTATATATATATAT>- [Show Flanks]
Chromosome:: 2:219241436 (GRCh38)
2:220106158 (GRCh37)
Canonical SPDI:: NC_000002.12:219241434:TGTGTGTGTATATATATATAT:T
Gene:: GLB1L (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
-=0.00082/63 (GnomAD)
HGVS:: NC_000002.12:g.219241436_219241455del, NC_000002.11:g.220106158_220106177del

Select item 148810628018.

rs1488106280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:219239764 (GRCh38)
2:220104486 (GRCh37)
Canonical SPDI:: NC_000002.12:219239763:T:C
Gene:: GLB1L (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_000002.12:g.219239764T>C, NC_000002.11:g.220104486T>C

Select item 148785417819.

rs1487854178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:219242866 (GRCh38)
2:220107588 (GRCh37)
Canonical SPDI:: NC_000002.12:219242865:C:T
Gene:: GLB1L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_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.219242866C>T, NC_000002.11:g.220107588C>T, NM_024506.5:c.292G>A, NM_024506.4:c.292G>A, NM_024506.3:c.292G>A, XM_024453137.2:c.292G>A, XM_024453137.1:c.292G>A, XM_024453138.2:c.292G>A, XM_024453138.1:c.292G>A, NM_001286423.2:c.292G>A, NM_001286423.1:c.292G>A, XM_017004895.2:c.292G>A, XM_017004895.1:c.292G>A, XM_047445814.1:c.292G>A, XM_047445815.1:c.292G>A, NM_001286427.1:c.292G>A, NP_078782.3:p.Gly98Ser, XP_024308905.1:p.Gly98Ser, XP_024308906.1:p.Gly98Ser, NP_001273352.1:p.Gly98Ser, XP_016860384.1:p.Gly98Ser, XP_047301770.1:p.Gly98Ser, XP_047301771.1:p.Gly98Ser, NP_001273356.1:p.Gly98Ser

Select item 148761477120.

rs1487614771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:219237371 (GRCh38)
2:220102093 (GRCh37)
Canonical SPDI:: NC_000002.12:219237370:A:G
Gene:: GLB1L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
G=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.219237371A>G, NC_000002.11:g.220102093A>G

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