SNP Links for Nucleotide (Select 219842222) - SNP

Links from Nucleotide

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Select item 14915801461.

rs1491580146 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:12890585 (GRCh38)
19:13001399 (GRCh37)
Canonical SPDI:: NC_000019.10:12890584:AA:
Gene:: GCDH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00011/7 (GnomAD)
HGVS:: NC_000019.10:g.12890585_12890586del, NC_000019.9:g.13001399_13001400del, NG_009292.1:g.4426_4427del, NG_013087.1:g.1618_1619del

Select item 14914976422.

rs1491497642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:12892428 (GRCh38)
19:13003243 (GRCh37)
Canonical SPDI:: NC_000019.10:12892428:TT:TTT
Gene:: GCDH (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.12892430dup, NC_000019.9:g.13003244dup, NG_009292.1:g.6271dup, NR_102316.1:n.493dup

Select item 14914524453.

rs1491452445 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:12892428 (GRCh38)
19:13003242 (GRCh37)
Canonical SPDI:: NC_000019.10:12892427:AT:
Gene:: GCDH (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12892428_12892429del, NC_000019.9:g.13003242_13003243del, NG_009292.1:g.6269_6270del, NR_102316.1:n.491_492del

Select item 14914318744.

rs1491431874 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:12890390 (GRCh38)
19:13001204 (GRCh37)
Canonical SPDI:: NC_000019.10:12890389:CA:
Gene:: GCDH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00067/8 (ALFA)
-=0.00018/6 (GnomAD)
HGVS:: NC_000019.10:g.12890390_12890391del, NC_000019.9:g.13001204_13001205del, NG_009292.1:g.4231_4232del, NG_013087.1:g.1813_1814del

Select item 14913988145.

rs1491398814 has merged into rs969979307 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:12886620 (GRCh38)
19:12997434 (GRCh37)
Canonical SPDI:: NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12886609:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KLF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.12886620_12886626del, NC_000019.10:g.12886621_12886626del, NC_000019.10:g.12886622_12886626del, NC_000019.10:g.12886623_12886626del, NC_000019.10:g.12886624_12886626del, NC_000019.10:g.12886625_12886626del, NC_000019.10:g.12886626del, NC_000019.10:g.12886626dup, NC_000019.10:g.12886625_12886626dup, NC_000019.10:g.12886624_12886626dup, NC_000019.10:g.12886623_12886626dup, NC_000019.10:g.12886622_12886626dup, NC_000019.10:g.12886621_12886626dup, NC_000019.10:g.12886620_12886626dup, NC_000019.10:g.12886626_12886627insTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12997434_12997440del, NC_000019.9:g.12997435_12997440del, NC_000019.9:g.12997436_12997440del, NC_000019.9:g.12997437_12997440del, NC_000019.9:g.12997438_12997440del, NC_000019.9:g.12997439_12997440del, NC_000019.9:g.12997440del, NC_000019.9:g.12997440dup, NC_000019.9:g.12997439_12997440dup, NC_000019.9:g.12997438_12997440dup, NC_000019.9:g.12997437_12997440dup, NC_000019.9:g.12997436_12997440dup, NC_000019.9:g.12997435_12997440dup, NC_000019.9:g.12997434_12997440dup, NC_000019.9:g.12997440_12997441insTTTTTTTTTTTTTTTTTTTTT, NG_009292.1:g.461_467del, NG_009292.1:g.462_467del, NG_009292.1:g.463_467del, NG_009292.1:g.464_467del, NG_009292.1:g.465_467del, NG_009292.1:g.466_467del, NG_009292.1:g.467del, NG_009292.1:g.467dup, NG_009292.1:g.466_467dup, NG_009292.1:g.465_467dup, NG_009292.1:g.464_467dup, NG_009292.1:g.463_467dup, NG_009292.1:g.462_467dup, NG_009292.1:g.461_467dup, NG_009292.1:g.467_468insTTTTTTTTTTTTTTTTTTTTT, NG_013087.1:g.5588_5594del, NG_013087.1:g.5589_5594del, NG_013087.1:g.5590_5594del, NG_013087.1:g.5591_5594del, NG_013087.1:g.5592_5594del, NG_013087.1:g.5593_5594del, NG_013087.1:g.5594del, NG_013087.1:g.5594dup, NG_013087.1:g.5593_5594dup, NG_013087.1:g.5592_5594dup, NG_013087.1:g.5591_5594dup, NG_013087.1:g.5590_5594dup, NG_013087.1:g.5589_5594dup, NG_013087.1:g.5588_5594dup, NG_013087.1:g.5594_5595insAAAAAAAAAAAAAAAAAAAAA, NG_068130.1:g.630_636del, NG_068130.1:g.631_636del, NG_068130.1:g.632_636del, NG_068130.1:g.633_636del, NG_068130.1:g.634_636del, NG_068130.1:g.635_636del, NG_068130.1:g.636del, NG_068130.1:g.636dup, NG_068130.1:g.635_636dup, NG_068130.1:g.634_636dup, NG_068130.1:g.633_636dup, NG_068130.1:g.632_636dup, NG_068130.1:g.631_636dup, NG_068130.1:g.630_636dup, NG_068130.1:g.636_637insTTTTTTTTTTTTTTTTTTTTT

Select item 14911860076.

rs1491186007 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:12890585 (GRCh38)
19:13001400 (GRCh37)
Canonical SPDI:: NC_000019.10:12890585::C
Gene:: GCDH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00126/15 (ALFA)
HGVS:: NC_000019.10:g.12890585_12890586insC, NC_000019.9:g.13001399_13001400insC, NG_009292.1:g.4426_4427insC, NG_013087.1:g.1618_1619insG

Select item 14910310687.

rs1491031068 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACAGA [Show Flanks]
Chromosome:: 19:12890674 (GRCh38)
19:13001489 (GRCh37)
Canonical SPDI:: NC_000019.10:12890674:A:ACACACAGA
Gene:: GCDH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACACACAGA=0./0 (ALFA)
ACACACAG=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.12890675AC[3]AGA[1], NC_000019.9:g.13001489AC[3]AGA[1], NG_009292.1:g.4516AC[3]AGA[1], NG_013087.1:g.1529_1530insCTGTGTGT, NG_068132.1:g.85AC[3]AGA[1]

Select item 14907570008.

rs1490757000 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12901481 (GRCh38)
19:13012295 (GRCh37)
Canonical SPDI:: NC_000019.10:12901480:A:G
Gene:: SYCE2 (Varview)
Functional Consequence:: intron_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_000019.10:g.12901481A>G, NC_000019.9:g.13012295A>G, NG_033049.1:g.22792T>C, NG_009292.1:g.15322A>G

Select item 14901254849.

rs1490125484 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:12886605 (GRCh38)
19:12997419 (GRCh37)
Canonical SPDI:: NC_000019.10:12886604:G:T
Gene:: KLF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
T=0.00007/2 (TOMMO)
HGVS:: NC_000019.10:g.12886605G>T, NC_000019.9:g.12997419G>T, NG_009292.1:g.446G>T, NG_013087.1:g.5599C>A, NG_068130.1:g.615G>T

Select item 149010949710.

rs1490109497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:12899884 (GRCh38)
19:13010698 (GRCh37)
Canonical SPDI:: NC_000019.10:12899883:C:A,NC_000019.10:12899883:C:T
Gene:: GCDH (Varview), SYCE2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.12899884C>A, NC_000019.10:g.12899884C>T, NC_000019.9:g.13010698C>A, NC_000019.9:g.13010698C>T, NG_033049.1:g.24389G>T, NG_033049.1:g.24389G>A, NG_009292.1:g.13725C>A, NG_009292.1:g.13725C>T, NM_013976.5:c.*141C>A, NM_013976.5:c.*141C>T, NM_013976.4:c.*141C>A, NM_013976.4:c.*141C>T, NM_013976.3:c.*141C>A, NM_013976.3:c.*141C>T, NM_000159.4:c.*343C>A, NM_000159.4:c.*343C>T, NM_000159.3:c.*343C>A, NM_000159.3:c.*343C>T, NR_102317.1:n.2041C>A, NR_102317.1:n.2041C>T, NR_102316.1:n.1823C>A, NR_102316.1:n.1823C>T

Select item 148994428411.

rs1489944284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12900421 (GRCh38)
19:13011235 (GRCh37)
Canonical SPDI:: NC_000019.10:12900420:C:T
Gene:: GCDH (Varview), SYCE2 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_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_000019.10:g.12900421C>T, NC_000019.9:g.13011235C>T, NG_033049.1:g.23852G>A, NG_009292.1:g.14262C>T

Select item 148990347112.

rs1489903471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12897750 (GRCh38)
19:13008564 (GRCh37)
Canonical SPDI:: NC_000019.10:12897749:A:G
Gene:: GCDH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.12897750A>G, NC_000019.9:g.13008564A>G, NG_033049.1:g.26523T>C, NG_009292.1:g.11591A>G, NM_013976.5:c.1130A>G, NM_013976.4:c.1130A>G, NM_013976.3:c.1130A>G, NM_000159.4:c.1130A>G, NM_000159.3:c.1130A>G, NR_102317.1:n.1511A>G, NR_102316.1:n.1293A>G, NP_039663.1:p.Lys377Arg, NP_000150.1:p.Lys377Arg

Select item 148968668913.

rs1489686689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:12893077 (GRCh38)
19:13003891 (GRCh37)
Canonical SPDI:: NC_000019.10:12893076:G:A,NC_000019.10:12893076:G:C
Gene:: GCDH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.12893077G>A, NC_000019.10:g.12893077G>C, NC_000019.9:g.13003891G>A, NC_000019.9:g.13003891G>C, NG_009292.1:g.6918G>A, NG_009292.1:g.6918G>C

Select item 148967056214.

rs1489670562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:12896985 (GRCh38)
19:13007799 (GRCh37)
Canonical SPDI:: NC_000019.10:12896984:C:T
Gene:: GCDH (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12896985C>T, NC_000019.9:g.13007799C>T, NG_009292.1:g.10826C>T, NM_013976.5:c.928C>T, NM_013976.4:c.928C>T, NM_013976.3:c.928C>T, NM_000159.4:c.928C>T, NM_000159.3:c.928C>T, NR_102317.1:n.1309C>T, NR_102316.1:n.1091C>T, NP_039663.1:p.His310Tyr, NP_000150.1:p.His310Tyr

Select item 148954310715.

rs1489543107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:12891325 (GRCh38)
19:13002139 (GRCh37)
Canonical SPDI:: NC_000019.10:12891324:C:G,NC_000019.10:12891324:C:T
Gene:: GCDH (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.12891325C>G, NC_000019.10:g.12891325C>T, NC_000019.9:g.13002139C>G, NC_000019.9:g.13002139C>T, NG_009292.1:g.5166C>G, NG_009292.1:g.5166C>T, NM_013976.5:c.21C>G, NM_013976.5:c.21C>T, NM_013976.4:c.21C>G, NM_013976.4:c.21C>T, NM_013976.3:c.21C>G, NM_013976.3:c.21C>T, NM_000159.4:c.21C>G, NM_000159.4:c.21C>T, NM_000159.3:c.21C>G, NM_000159.3:c.21C>T, NR_102317.1:n.129C>G, NR_102317.1:n.129C>T, NR_102316.1:n.129C>G, NR_102316.1:n.129C>T, NG_013087.1:g.879G>C, NG_013087.1:g.879G>A, NG_068132.1:g.735C>G, NG_068132.1:g.735C>T

Select item 148949576816.

rs1489495768 has merged into rs756174438 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 19:12898534 (GRCh38)
19:13009348 (GRCh37)
Canonical SPDI:: NC_000019.10:12898533:GGGGGG:GGGGG,NC_000019.10:12898533:GGGGGG:GGGGGGG
Gene:: GCDH (Varview), SYCE2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000433/8 (ALFA)
-=0.001079/4 (TWINSUK)
-=0.001093/7 (1000Genomes)
-=0.001786/8 (Estonian)
-=0.001816/7 (ALSPAC)
-=0.001904/504 (TOPMED)
-=0.013333/8 (NorthernSweden)
HGVS:: NC_000019.10:g.12898539del, NC_000019.10:g.12898539dup, NC_000019.9:g.13009353del, NC_000019.9:g.13009353dup, NG_033049.1:g.25739del, NG_033049.1:g.25739dup, NG_009292.1:g.12380del, NG_009292.1:g.12380dup

Select item 148930783517.

rs1489307835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:12901817 (GRCh38)
19:13012631 (GRCh37)
Canonical SPDI:: NC_000019.10:12901816:A:G
Gene:: SYCE2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.12901817A>G, NC_000019.9:g.13012631A>G, NG_033049.1:g.22456T>C, NG_009292.1:g.15658A>G

Select item 148922537718.

rs1489225377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:12899292 (GRCh38)
19:13010106 (GRCh37)
Canonical SPDI:: NC_000019.10:12899291:C:G
Gene:: GCDH (Varview), SYCE2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.12899292C>G, NC_000019.9:g.13010106C>G, NG_033049.1:g.24981G>C, NM_001105578.2:c.*49G>C, NM_001105578.1:c.*49G>C, NG_009292.1:g.13133C>G, XM_011527882.3:c.*49G>C, XM_011527882.2:c.*49G>C, XM_011527882.1:c.*49G>C

Select item 148911623319.

rs1489116233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:12886644 (GRCh38)
19:12997458 (GRCh37)
Canonical SPDI:: NC_000019.10:12886643:C:A,NC_000019.10:12886643:C:G,NC_000019.10:12886643:C:T
Gene:: KLF1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
A=0.000318/9 (TOMMO)
HGVS:: NC_000019.10:g.12886644C>A, NC_000019.10:g.12886644C>G, NC_000019.10:g.12886644C>T, NC_000019.9:g.12997458C>A, NC_000019.9:g.12997458C>G, NC_000019.9:g.12997458C>T, NG_009292.1:g.485C>A, NG_009292.1:g.485C>G, NG_009292.1:g.485C>T, NG_013087.1:g.5560G>T, NG_013087.1:g.5560G>C, NG_013087.1:g.5560G>A, NG_068130.1:g.654C>A, NG_068130.1:g.654C>G, NG_068130.1:g.654C>T

Select item 148906083420.

rs1489060834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:12892296 (GRCh38)
19:13003110 (GRCh37)
Canonical SPDI:: NC_000019.10:12892295:T:C
Gene:: GCDH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.12892296T>C, NC_000019.9:g.13003110T>C, NG_009292.1:g.6137T>C

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