SNP Links for Nucleotide (Select 237874201) - SNP

Links from Nucleotide

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Select item 14915252401.

rs1491525240 has merged into rs373367825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC [Show Flanks]
Chromosome:: 1:150555819 (GRCh38)
1:150528295 (GRCh37)
Canonical SPDI:: NC_000001.11:150555813:CACACACAC:CACAC,NC_000001.11:150555813:CACACACAC:CACACAC,NC_000001.11:150555813:CACACACAC:CACACACACAC
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACAC=0./0 (ALFA)
-=0.00021/4 (TOMMO)
-=0.001/1 (GoNL)
-=0.00109/2 (Korea1K)
-=0.00281/18 (1000Genomes)
HGVS:: NC_000001.11:g.150555815AC[2], NC_000001.11:g.150555815AC[3], NC_000001.11:g.150555815AC[5], NC_000001.10:g.150528291AC[2], NC_000001.10:g.150528291AC[3], NC_000001.10:g.150528291AC[5], NG_012172.1:g.11394AC[2], NG_012172.1:g.11394AC[3], NG_012172.1:g.11394AC[5]

Select item 14914387942.

rs1491438794 [Homo sapiens]

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

Select item 14913954223.

rs1491395422 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 1:150555844 (GRCh38)
1:150528320 (GRCh37)
Canonical SPDI:: NC_000001.11:150555837:CACACACA:CACACA,NC_000001.11:150555837:CACACACA:CACACACACA
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACA=0.000071/1 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000121/32 (TOPMED)
HGVS:: NC_000001.11:g.150555838CA[3], NC_000001.11:g.150555838CA[5], NC_000001.10:g.150528314CA[3], NC_000001.10:g.150528314CA[5], NG_012172.1:g.11417CA[3], NG_012172.1:g.11417CA[5]

Select item 14913660254.

rs1491366025 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:150555813 (GRCh38)
1:150528289 (GRCh37)
Canonical SPDI:: NC_000001.11:150555812:GC:
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000061/1 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.150555813_150555814del, NC_000001.10:g.150528289_150528290del, NG_012172.1:g.11392_11393del

Select item 14913392465.

rs1491339246 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:150555578 (GRCh38)
1:150528054 (GRCh37)
Canonical SPDI:: NC_000001.11:150555577:AG:
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150555578_150555579del, NC_000001.10:g.150528054_150528055del, NG_012172.1:g.11157_11158del

Select item 14912003336.

rs1491200333 has merged into rs767940691 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:150544933 (GRCh38)
1:150517409 (GRCh37)
Canonical SPDI:: NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:150544923:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000001.11:g.150544933_150544945del, NC_000001.11:g.150544935_150544945del, NC_000001.11:g.150544936_150544945del, NC_000001.11:g.150544937_150544945del, NC_000001.11:g.150544938_150544945del, NC_000001.11:g.150544939_150544945del, NC_000001.11:g.150544940_150544945del, NC_000001.11:g.150544941_150544945del, NC_000001.11:g.150544942_150544945del, NC_000001.11:g.150544943_150544945del, NC_000001.11:g.150544944_150544945del, NC_000001.11:g.150544945del, NC_000001.11:g.150544945dup, NC_000001.11:g.150544944_150544945dup, NC_000001.11:g.150544943_150544945dup, NC_000001.11:g.150544942_150544945dup, NC_000001.11:g.150544941_150544945dup, NC_000001.11:g.150544940_150544945dup, NC_000001.11:g.150544939_150544945dup, NC_000001.11:g.150544927_150544945dup, NC_000001.10:g.150517409_150517421del, NC_000001.10:g.150517411_150517421del, NC_000001.10:g.150517412_150517421del, NC_000001.10:g.150517413_150517421del, NC_000001.10:g.150517414_150517421del, NC_000001.10:g.150517415_150517421del, NC_000001.10:g.150517416_150517421del, NC_000001.10:g.150517417_150517421del, NC_000001.10:g.150517418_150517421del, NC_000001.10:g.150517419_150517421del, NC_000001.10:g.150517420_150517421del, NC_000001.10:g.150517421del, NC_000001.10:g.150517421dup, NC_000001.10:g.150517420_150517421dup, NC_000001.10:g.150517419_150517421dup, NC_000001.10:g.150517418_150517421dup, NC_000001.10:g.150517417_150517421dup, NC_000001.10:g.150517416_150517421dup, NC_000001.10:g.150517415_150517421dup, NC_000001.10:g.150517403_150517421dup, NG_012172.1:g.512_524del, NG_012172.1:g.514_524del, NG_012172.1:g.515_524del, NG_012172.1:g.516_524del, NG_012172.1:g.517_524del, NG_012172.1:g.518_524del, NG_012172.1:g.519_524del, NG_012172.1:g.520_524del, NG_012172.1:g.521_524del, NG_012172.1:g.522_524del, NG_012172.1:g.523_524del, NG_012172.1:g.524del, NG_012172.1:g.524dup, NG_012172.1:g.523_524dup, NG_012172.1:g.522_524dup, NG_012172.1:g.521_524dup, NG_012172.1:g.520_524dup, NG_012172.1:g.519_524dup, NG_012172.1:g.518_524dup, NG_012172.1:g.506_524dup

Select item 14910715807.

rs1491071580 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:150555651 (GRCh38)
1:150528127 (GRCh37)
Canonical SPDI:: NC_000001.11:150555648:ATAT:AT
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000285/4 (ALFA)
-=0.000038/10 (TOPMED)
-=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.150555649AT[1], NC_000001.10:g.150528125AT[1], NG_012172.1:g.11228AT[1]

Select item 14909865928.

rs1490986592 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150554615 (GRCh38)
1:150527091 (GRCh37)
Canonical SPDI:: NC_000001.11:150554614:G:A
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.150554615G>A, NC_000001.10:g.150527091G>A, NG_012172.1:g.10194G>A, NM_001288608.2:c.1284G>A, NM_001288608.1:c.1284G>A, NM_001288607.2:c.1284G>A, NM_001288607.1:c.1284G>A, XM_011509644.4:c.1383G>A, XM_011509644.3:c.1383G>A, XM_011509644.2:c.1383G>A, XM_011509644.1:c.1383G>A, XM_011509648.4:c.1284G>A, XM_011509648.3:c.1284G>A, XM_011509648.2:c.1284G>A, XM_011509648.1:c.1284G>A, XM_011509649.4:c.1383G>A, XM_011509649.3:c.1383G>A, XM_011509649.2:c.1383G>A, XM_011509649.1:c.1383G>A, XM_011509650.4:c.1383G>A, XM_011509650.3:c.1383G>A, XM_011509650.2:c.1383G>A, XM_011509650.1:c.1383G>A, XM_017001506.3:c.1284G>A, XM_017001506.2:c.1284G>A, XM_017001506.1:c.1284G>A, XM_011509652.3:c.-74G>A, XM_011509652.2:c.-74G>A, XM_011509652.1:c.-74G>A, XR_001738227.2:n.239C>T, XR_001738227.1:n.386C>T, XM_047422820.1:c.1284G>A, XM_047422824.1:c.1284G>A, XM_047422823.1:c.1284G>A, XM_047422841.1:c.1383G>A, XR_001738228.1:n.291C>T, XR_007066602.1:n.239C>T

Select item 14908846509.

rs1490884650 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150553725 (GRCh38)
1:150526201 (GRCh37)
Canonical SPDI:: NC_000001.11:150553724:G:A
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150553725G>A, NC_000001.10:g.150526201G>A, NG_012172.1:g.9304G>A, NM_019032.6:c.734G>A, NM_019032.5:c.734G>A, NM_019032.4:c.734G>A, NM_025008.5:c.734G>A, NM_025008.4:c.734G>A, NM_025008.3:c.734G>A, NM_001288608.2:c.734G>A, NM_001288608.1:c.734G>A, NM_001288607.2:c.734G>A, NM_001288607.1:c.734G>A, NM_001378596.1:c.734G>A, XM_011509644.4:c.833G>A, XM_011509644.3:c.833G>A, XM_011509644.2:c.833G>A, XM_011509644.1:c.833G>A, XM_011509648.4:c.734G>A, XM_011509648.3:c.734G>A, XM_011509648.2:c.734G>A, XM_011509648.1:c.734G>A, XM_011509649.4:c.833G>A, XM_011509649.3:c.833G>A, XM_011509649.2:c.833G>A, XM_011509649.1:c.833G>A, XM_011509650.4:c.833G>A, XM_011509650.3:c.833G>A, XM_011509650.2:c.833G>A, XM_011509650.1:c.833G>A, XM_017001506.3:c.734G>A, XM_017001506.2:c.734G>A, XM_017001506.1:c.734G>A, XM_047422820.1:c.734G>A, XM_047422830.1:c.734G>A, XM_047422824.1:c.734G>A, XM_047422823.1:c.734G>A, XM_047422819.1:c.833G>A, XM_047422832.1:c.734G>A, XM_047422841.1:c.833G>A, XM_047422842.1:c.833G>A, NP_061905.2:p.Arg245Lys, NP_079284.2:p.Arg245Lys, NP_001275537.1:p.Arg245Lys, NP_001275536.1:p.Arg245Lys, NP_001365525.1:p.Arg245Lys, XP_011507946.1:p.Arg278Lys, XP_011507950.1:p.Arg245Lys, XP_011507951.1:p.Arg278Lys, XP_011507952.1:p.Arg278Lys, XP_016856995.1:p.Arg245Lys, XP_047278776.1:p.Arg245Lys, XP_047278786.1:p.Arg245Lys, XP_047278780.1:p.Arg245Lys, XP_047278779.1:p.Arg245Lys, XP_047278775.1:p.Arg278Lys, XP_047278788.1:p.Arg245Lys, XP_047278797.1:p.Arg278Lys, XP_047278798.1:p.Arg278Lys

Select item 149086548310.

rs1490865483 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150561697 (GRCh38)
1:150534173 (GRCh37)
Canonical SPDI:: NC_000001.11:150561696:C:T
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.150561697C>T, NC_000001.10:g.150534173C>T, NG_012172.1:g.17276C>T, NM_001025493.1:c.-227G>A

Select item 149071539811.

rs1490715398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150544701 (GRCh38)
1:150517177 (GRCh37)
Canonical SPDI:: NC_000001.11:150544700:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00157/7 (ALFA)
T=0.00053/9 (TOMMO)
T=0.00156/7 (Estonian)
HGVS:: NC_000001.11:g.150544701C>T, NC_000001.10:g.150517177C>T, NG_012172.1:g.280C>T

Select item 149063938712.

rs1490639387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150560161 (GRCh38)
1:150532637 (GRCh37)
Canonical SPDI:: NC_000001.11:150560160:C:A
Gene:: ADAMTSL4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000016/2 (ExAC)
A=0.001667/1 (NorthernSweden)
HGVS:: NC_000001.11:g.150560161C>A, NC_000001.10:g.150532637C>A, NG_012172.1:g.15740C>A, NM_019032.6:c.3190C>A, NM_019032.5:c.3190C>A, NM_019032.4:c.3190C>A, NM_001288608.2:c.3259C>A, NM_001288608.1:c.3259C>A, NM_001288607.2:c.3073C>A, NM_001288607.1:c.3073C>A, NM_001378596.1:c.3190C>A, XM_011509644.4:c.3358C>A, XM_011509644.3:c.3358C>A, XM_011509644.2:c.3358C>A, XM_011509644.1:c.3358C>A, XM_011509648.4:c.3259C>A, XM_011509648.3:c.3259C>A, XM_011509648.2:c.3259C>A, XM_011509648.1:c.3259C>A, XM_017001506.3:c.3259C>A, XM_017001506.2:c.3259C>A, XM_017001506.1:c.3259C>A, XM_011509651.3:c.1867C>A, XM_011509651.2:c.1867C>A, XM_011509651.1:c.1867C>A, XM_011509652.3:c.1867C>A, XM_011509652.2:c.1867C>A, XM_011509652.1:c.1867C>A, XM_047422820.1:c.3259C>A, XM_047422830.1:c.3190C>A, XM_047422824.1:c.3259C>A, XM_047422823.1:c.3259C>A, XM_047422819.1:c.3289C>A, XM_047422832.1:c.3190C>A, NP_061905.2:p.His1064Asn, NP_001275537.1:p.His1087Asn, NP_001275536.1:p.His1025Asn, NP_001365525.1:p.His1064Asn, XP_011507946.1:p.His1120Asn, XP_011507950.1:p.His1087Asn, XP_016856995.1:p.His1087Asn, XP_011507953.1:p.His623Asn, XP_011507954.1:p.His623Asn, XP_047278776.1:p.His1087Asn, XP_047278786.1:p.His1064Asn, XP_047278780.1:p.His1087Asn, XP_047278779.1:p.His1087Asn, XP_047278775.1:p.His1097Asn, XP_047278788.1:p.His1064Asn

Select item 149062381013.

rs1490623810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150560128 (GRCh38)
1:150532604 (GRCh37)
Canonical SPDI:: NC_000001.11:150560127:T:C
Gene:: ADAMTSL4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000106/2 (TOMMO)
HGVS:: NC_000001.11:g.150560128T>C, NC_000001.10:g.150532604T>C, NG_012172.1:g.15707T>C, NM_019032.6:c.3157T>C, NM_019032.5:c.3157T>C, NM_019032.4:c.3157T>C, NM_001288608.2:c.3226T>C, NM_001288608.1:c.3226T>C, NM_001288607.2:c.3040T>C, NM_001288607.1:c.3040T>C, NM_001378596.1:c.3157T>C, XM_011509644.4:c.3325T>C, XM_011509644.3:c.3325T>C, XM_011509644.2:c.3325T>C, XM_011509644.1:c.3325T>C, XM_011509648.4:c.3226T>C, XM_011509648.3:c.3226T>C, XM_011509648.2:c.3226T>C, XM_011509648.1:c.3226T>C, XM_017001506.3:c.3226T>C, XM_017001506.2:c.3226T>C, XM_017001506.1:c.3226T>C, XM_011509651.3:c.1834T>C, XM_011509651.2:c.1834T>C, XM_011509651.1:c.1834T>C, XM_011509652.3:c.1834T>C, XM_011509652.2:c.1834T>C, XM_011509652.1:c.1834T>C, XM_047422820.1:c.3226T>C, XM_047422830.1:c.3157T>C, XM_047422824.1:c.3226T>C, XM_047422823.1:c.3226T>C, XM_047422819.1:c.3256T>C, XM_047422832.1:c.3157T>C, NP_061905.2:p.Tyr1053His, NP_001275537.1:p.Tyr1076His, NP_001275536.1:p.Tyr1014His, NP_001365525.1:p.Tyr1053His, XP_011507946.1:p.Tyr1109His, XP_011507950.1:p.Tyr1076His, XP_016856995.1:p.Tyr1076His, XP_011507953.1:p.Tyr612His, XP_011507954.1:p.Tyr612His, XP_047278776.1:p.Tyr1076His, XP_047278786.1:p.Tyr1053His, XP_047278780.1:p.Tyr1076His, XP_047278779.1:p.Tyr1076His, XP_047278775.1:p.Tyr1086His, XP_047278788.1:p.Tyr1053His

Select item 149050763314.

rs1490507633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150546521 (GRCh38)
1:150518997 (GRCh37)
Canonical SPDI:: NC_000001.11:150546520:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150546521T>C, NC_000001.10:g.150518997T>C, NG_012172.1:g.2100T>C

Select item 149049314815.

rs1490493148 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACTCCAGCCTGGGTG>- [Show Flanks]
Chromosome:: 1:150547445 (GRCh38)
1:150519921 (GRCh37)
Canonical SPDI:: NC_000001.11:150547442:TGCACTCCAGCCTGGGTG:TG
Gene:: ADAMTSL4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150547445_150547460del, NC_000001.10:g.150519921_150519936del, NG_012172.1:g.3024_3039del

Select item 149040759916.

rs1490407599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150562805 (GRCh38)
1:150535281 (GRCh37)
Canonical SPDI:: NC_000001.11:150562804:T:C
Gene:: ADAMTSL4-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000389/7 (TOMMO)
HGVS:: NC_000001.11:g.150562805T>C, NC_000001.10:g.150535281T>C, NG_012172.1:g.18384T>C

Select item 149034280217.

rs1490342802 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 1:150546944 (GRCh38)
1:150519421 (GRCh37)
Canonical SPDI:: NC_000001.11:150546944:AAA:AAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
AA=0.000015/4 (TOPMED)
AA=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.150546946_150546947dup, NC_000001.10:g.150519422_150519423dup, NG_012172.1:g.2525_2526dup

Select item 149033680918.

rs1490336809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:150544876 (GRCh38)
1:150517352 (GRCh37)
Canonical SPDI:: NC_000001.11:150544875:G:A,NC_000001.11:150544875:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000142/2 (TOMMO)
HGVS:: NC_000001.11:g.150544876G>A, NC_000001.11:g.150544876G>C, NC_000001.10:g.150517352G>A, NC_000001.10:g.150517352G>C, NG_012172.1:g.455G>A, NG_012172.1:g.455G>C

Select item 149029992419.

rs1490299924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150560560 (GRCh38)
1:150533036 (GRCh37)
Canonical SPDI:: NC_000001.11:150560559:G:A
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150560560G>A, NC_000001.10:g.150533036G>A, NG_012172.1:g.16139G>A, NM_019032.6:c.*364G>A, NM_019032.5:c.*364G>A, NM_019032.4:c.*364G>A, NM_001288608.2:c.*364G>A, NM_001288608.1:c.*364G>A, NM_001288607.2:c.*364G>A, NM_001288607.1:c.*364G>A, NM_001378596.1:c.*364G>A, XM_011509644.4:c.*364G>A, XM_011509644.3:c.*364G>A, XM_011509644.2:c.*364G>A, XM_011509644.1:c.*364G>A, XM_011509648.4:c.*364G>A, XM_011509648.3:c.*364G>A, XM_011509648.2:c.*364G>A, XM_011509648.1:c.*364G>A, XM_017001506.3:c.*364G>A, XM_017001506.2:c.*364G>A, XM_017001506.1:c.*364G>A, XM_011509651.3:c.*364G>A, XM_011509651.2:c.*364G>A, XM_011509651.1:c.*364G>A, XM_011509652.3:c.*364G>A, XM_011509652.2:c.*364G>A, XM_011509652.1:c.*364G>A, XM_047422820.1:c.*364G>A, XM_047422830.1:c.*364G>A, XM_047422824.1:c.*364G>A, XM_047422823.1:c.*364G>A, XM_047422819.1:c.*364G>A, XM_047422832.1:c.*364G>A, NM_001025493.1:c.*521C>T

Select item 149004210820.

rs1490042108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150554984 (GRCh38)
1:150527460 (GRCh37)
Canonical SPDI:: NC_000001.11:150554983:G:A
Gene:: ADAMTSL4 (Varview), ADAMTSL4-AS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.150554984G>A, NC_000001.10:g.150527460G>A, NG_012172.1:g.10563G>A

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