SNP Links for Gene (Select 114327) - SNP

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Select item 14915624701.

rs1491562470 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:52458268 (GRCh38)
6:52323066 (GRCh37)
Canonical SPDI:: NC_000006.12:52458267:GA:
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.52458268_52458269del, NC_000006.11:g.52323066_52323067del, NG_016760.1:g.43073_43074del

Select item 14914536772.

rs1491453677 has merged into rs138415672 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 6:52458269 (GRCh38)
6:52323067 (GRCh37)
Canonical SPDI:: NC_000006.12:52458268:AAAAAAAAA:AAAAAAAA,NC_000006.12:52458268:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:52458268:AAAAAAAAA:AAAAAAAAAAA
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.043122/79 (Korea1K)
-=0.051561/864 (TOMMO)
-=0.093527/419 (Estonian)
-=0.1/4 (GENOME_DK)
-=0.110224/552 (1000Genomes)
-=0.112224/112 (GoNL)
-=0.118932/441 (TWINSUK)
-=0.126362/487 (ALSPAC)
-=0.135725/35925 (TOPMED)
-=0.146667/88 (NorthernSweden)
HGVS:: NC_000006.12:g.52458277del, NC_000006.12:g.52458277dup, NC_000006.12:g.52458276_52458277dup, NC_000006.11:g.52323075del, NC_000006.11:g.52323075dup, NC_000006.11:g.52323074_52323075dup, NG_016760.1:g.43082del, NG_016760.1:g.43082dup, NG_016760.1:g.43081_43082dup

Select item 14914278533.

rs1491427853 [Homo sapiens]

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

Select item 14913893884.

rs1491389388 has merged into rs777016070 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:52462895 (GRCh38)
6:52327693 (GRCh37)
Canonical SPDI:: NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:52462885:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.52462895_52462901del, NC_000006.12:g.52462896_52462901del, NC_000006.12:g.52462898_52462901del, NC_000006.12:g.52462899_52462901del, NC_000006.12:g.52462900_52462901del, NC_000006.12:g.52462901del, NC_000006.12:g.52462901dup, NC_000006.12:g.52462900_52462901dup, NC_000006.12:g.52462899_52462901dup, NC_000006.12:g.52462898_52462901dup, NC_000006.12:g.52462897_52462901dup, NC_000006.11:g.52327693_52327699del, NC_000006.11:g.52327694_52327699del, NC_000006.11:g.52327696_52327699del, NC_000006.11:g.52327697_52327699del, NC_000006.11:g.52327698_52327699del, NC_000006.11:g.52327699del, NC_000006.11:g.52327699dup, NC_000006.11:g.52327698_52327699dup, NC_000006.11:g.52327697_52327699dup, NC_000006.11:g.52327696_52327699dup, NC_000006.11:g.52327695_52327699dup, NG_016760.1:g.47700_47706del, NG_016760.1:g.47701_47706del, NG_016760.1:g.47703_47706del, NG_016760.1:g.47704_47706del, NG_016760.1:g.47705_47706del, NG_016760.1:g.47706del, NG_016760.1:g.47706dup, NG_016760.1:g.47705_47706dup, NG_016760.1:g.47704_47706dup, NG_016760.1:g.47703_47706dup, NG_016760.1:g.47702_47706dup

Select item 14913301775.

rs1491330177 [Homo sapiens]

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

Select item 14912736026.

rs1491273602 has merged into rs150509864 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:52453633 (GRCh38)
6:52318431 (GRCh37)
Canonical SPDI:: NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:52453622:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.52453633_52453639del, NC_000006.12:g.52453634_52453639del, NC_000006.12:g.52453636_52453639del, NC_000006.12:g.52453637_52453639del, NC_000006.12:g.52453638_52453639del, NC_000006.12:g.52453639del, NC_000006.12:g.52453639dup, NC_000006.12:g.52453638_52453639dup, NC_000006.11:g.52318431_52318437del, NC_000006.11:g.52318432_52318437del, NC_000006.11:g.52318434_52318437del, NC_000006.11:g.52318435_52318437del, NC_000006.11:g.52318436_52318437del, NC_000006.11:g.52318437del, NC_000006.11:g.52318437dup, NC_000006.11:g.52318436_52318437dup, NG_016760.1:g.38438_38444del, NG_016760.1:g.38439_38444del, NG_016760.1:g.38441_38444del, NG_016760.1:g.38442_38444del, NG_016760.1:g.38443_38444del, NG_016760.1:g.38444del, NG_016760.1:g.38444dup, NG_016760.1:g.38443_38444dup, NR_033327.2:n.1588_1594del, NR_033327.2:n.1589_1594del, NR_033327.2:n.1591_1594del, NR_033327.2:n.1592_1594del, NR_033327.2:n.1593_1594del, NR_033327.2:n.1594del, NR_033327.2:n.1594dup, NR_033327.2:n.1593_1594dup, NR_033327.1:n.1734_1740del, NR_033327.1:n.1735_1740del, NR_033327.1:n.1737_1740del, NR_033327.1:n.1738_1740del, NR_033327.1:n.1739_1740del, NR_033327.1:n.1740del, NR_033327.1:n.1740dup, NR_033327.1:n.1739_1740dup

Select item 14912444207.

rs1491244420 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:52482996 (GRCh38)
6:52347794 (GRCh37)
Canonical SPDI:: NC_000006.12:52482991:GAGAGA:GAGA
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.52482992GA[2], NC_000006.11:g.52347790GA[2], NG_016760.1:g.67797GA[2]

Select item 14911985298.

rs1491198529 has merged into rs67536928 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 6:52493386 (GRCh38)
6:52358184 (GRCh37)
Canonical SPDI:: NC_000006.12:52493384:TTTT:T,NC_000006.12:52493384:TTTT:TT,NC_000006.12:52493384:TTTT:TTT,NC_000006.12:52493384:TTTT:TTTTT,NC_000006.12:52493384:TTTT:TTTTTT
Gene:: EFHC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00055/9 (ALFA)
-=0.00003/1 (GnomAD_exomes)
-=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.52493386_52493388del, NC_000006.12:g.52493387_52493388del, NC_000006.12:g.52493388del, NC_000006.12:g.52493388dup, NC_000006.12:g.52493387_52493388dup, NC_000006.11:g.52358184_52358186del, NC_000006.11:g.52358185_52358186del, NC_000006.11:g.52358186del, NC_000006.11:g.52358186dup, NC_000006.11:g.52358185_52358186dup, NG_016760.1:g.78191_78193del, NG_016760.1:g.78192_78193del, NG_016760.1:g.78193del, NG_016760.1:g.78193dup, NG_016760.1:g.78192_78193dup, NM_018100.4:c.*1045_*1047del, NM_018100.4:c.*1046_*1047del, NM_018100.4:c.*1047del, NM_018100.4:c.*1047dup, NM_018100.4:c.*1046_*1047dup, NM_018100.3:c.*1045_*1047del, NM_018100.3:c.*1046_*1047del, NM_018100.3:c.*1047del, NM_018100.3:c.*1047dup, NM_018100.3:c.*1046_*1047dup, NR_033327.2:n.4294_4296del, NR_033327.2:n.4295_4296del, NR_033327.2:n.4296del, NR_033327.2:n.4296dup, NR_033327.2:n.4295_4296dup, NR_033327.1:n.4440_4442del, NR_033327.1:n.4441_4442del, NR_033327.1:n.4442del, NR_033327.1:n.4442dup, NR_033327.1:n.4441_4442dup, NM_001172420.2:c.*1045_*1047del, NM_001172420.2:c.*1046_*1047del, NM_001172420.2:c.*1047del, NM_001172420.2:c.*1047dup, NM_001172420.2:c.*1046_*1047dup, NM_001172420.1:c.*1045_*1047del, NM_001172420.1:c.*1046_*1047del, NM_001172420.1:c.*1047del, NM_001172420.1:c.*1047dup, NM_001172420.1:c.*1046_*1047dup

Select item 14911648499.

rs1491164849 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGA [Show Flanks]
Chromosome:: 6:52482992 (GRCh38)
6:52347791 (GRCh37)
Canonical SPDI:: NC_000006.12:52482992:AGAGA:AGAGAAGAGA
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGAAGAGA=0./0 (ALFA)
AGAGA=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.52482993_52482997dup, NC_000006.11:g.52347791_52347795dup, NG_016760.1:g.67798_67802dup

Select item 149115431410.

rs1491154314 has merged into rs59383268 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:52423670 (GRCh38)
6:52288468 (GRCh37)
Canonical SPDI:: NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:52423657:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.52423670_52423684del, NC_000006.12:g.52423671_52423684del, NC_000006.12:g.52423672_52423684del, NC_000006.12:g.52423673_52423684del, NC_000006.12:g.52423674_52423684del, NC_000006.12:g.52423675_52423684del, NC_000006.12:g.52423676_52423684del, NC_000006.12:g.52423677_52423684del, NC_000006.12:g.52423678_52423684del, NC_000006.12:g.52423681_52423684del, NC_000006.12:g.52423683_52423684del, NC_000006.12:g.52423684del, NC_000006.12:g.52423684dup, NC_000006.12:g.52423683_52423684dup, NC_000006.12:g.52423682_52423684dup, NC_000006.12:g.52423681_52423684dup, NC_000006.12:g.52423680_52423684dup, NC_000006.12:g.52423678_52423684dup, NC_000006.12:g.52423676_52423684dup, NC_000006.12:g.52423675_52423684dup, NC_000006.12:g.52423674_52423684dup, NC_000006.12:g.52423673_52423684dup, NC_000006.12:g.52423671_52423684dup, NC_000006.12:g.52423670_52423684dup, NC_000006.12:g.52423669_52423684dup, NC_000006.12:g.52423684_52423685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.52288468_52288482del, NC_000006.11:g.52288469_52288482del, NC_000006.11:g.52288470_52288482del, NC_000006.11:g.52288471_52288482del, NC_000006.11:g.52288472_52288482del, NC_000006.11:g.52288473_52288482del, NC_000006.11:g.52288474_52288482del, NC_000006.11:g.52288475_52288482del, NC_000006.11:g.52288476_52288482del, NC_000006.11:g.52288479_52288482del, NC_000006.11:g.52288481_52288482del, NC_000006.11:g.52288482del, NC_000006.11:g.52288482dup, NC_000006.11:g.52288481_52288482dup, NC_000006.11:g.52288480_52288482dup, NC_000006.11:g.52288479_52288482dup, NC_000006.11:g.52288478_52288482dup, NC_000006.11:g.52288476_52288482dup, NC_000006.11:g.52288474_52288482dup, NC_000006.11:g.52288473_52288482dup, NC_000006.11:g.52288472_52288482dup, NC_000006.11:g.52288471_52288482dup, NC_000006.11:g.52288469_52288482dup, NC_000006.11:g.52288468_52288482dup, NC_000006.11:g.52288467_52288482dup, NC_000006.11:g.52288482_52288483insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016760.1:g.8475_8489del, NG_016760.1:g.8476_8489del, NG_016760.1:g.8477_8489del, NG_016760.1:g.8478_8489del, NG_016760.1:g.8479_8489del, NG_016760.1:g.8480_8489del, NG_016760.1:g.8481_8489del, NG_016760.1:g.8482_8489del, NG_016760.1:g.8483_8489del, NG_016760.1:g.8486_8489del, NG_016760.1:g.8488_8489del, NG_016760.1:g.8489del, NG_016760.1:g.8489dup, NG_016760.1:g.8488_8489dup, NG_016760.1:g.8487_8489dup, NG_016760.1:g.8486_8489dup, NG_016760.1:g.8485_8489dup, NG_016760.1:g.8483_8489dup, NG_016760.1:g.8481_8489dup, NG_016760.1:g.8480_8489dup, NG_016760.1:g.8479_8489dup, NG_016760.1:g.8478_8489dup, NG_016760.1:g.8476_8489dup, NG_016760.1:g.8475_8489dup, NG_016760.1:g.8474_8489dup, NG_016760.1:g.8489_8490insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149110120511.

rs1491101205 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:52423658 (GRCh38)
6:52288457 (GRCh37)
Canonical SPDI:: NC_000006.12:52423658::A
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000033/1 (GnomAD)
HGVS:: NC_000006.12:g.52423658_52423659insA, NC_000006.11:g.52288456_52288457insA, NG_016760.1:g.8463_8464insA

Select item 149101433312.

rs1491014333 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:52423684 (GRCh38)
6:52288482 (GRCh37)
Canonical SPDI:: NC_000006.12:52423683:TA:
Gene:: EFHC1 (Varview)
Functional Consequence:: splice_acceptor_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.52423684_52423685del, NC_000006.11:g.52288482_52288483del, NG_016760.1:g.8489_8490del

Select item 149097234813.

rs1490972348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:52443324 (GRCh38)
6:52308122 (GRCh37)
Canonical SPDI:: NC_000006.12:52443323:G:C
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.52443324G>C, NC_000006.11:g.52308122G>C, NG_016760.1:g.28129G>C

Select item 149087142114.

rs1490871421 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:52423671 (GRCh38)
6:52288469 (GRCh37)
Canonical SPDI:: NC_000006.12:52423670:T:C
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.52423671T>C, NC_000006.11:g.52288469T>C, NG_016760.1:g.8476T>C

Select item 149087084815.

rs1490870848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:52483941 (GRCh38)
6:52348739 (GRCh37)
Canonical SPDI:: NC_000006.12:52483940:C:T
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.52483941C>T, NC_000006.11:g.52348739C>T, NG_016760.1:g.68746C>T

Select item 149082667116.

rs1490826671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:52495758 (GRCh38)
6:52360556 (GRCh37)
Canonical SPDI:: NC_000006.12:52495757:G:A,NC_000006.12:52495757:G:T
Gene:: EFHC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000017/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.52495758G>A, NC_000006.12:g.52495758G>T, NC_000006.11:g.52360556G>A, NC_000006.11:g.52360556G>T, NG_016760.1:g.80563G>A, NG_016760.1:g.80563G>T, NM_018100.4:c.*3417G>A, NM_018100.4:c.*3417G>T, NM_018100.3:c.*3417G>A, NM_018100.3:c.*3417G>T, NR_033327.2:n.6666G>A, NR_033327.2:n.6666G>T, NR_033327.1:n.6812G>A, NR_033327.1:n.6812G>T, NM_001172420.2:c.*3417G>A, NM_001172420.2:c.*3417G>T, NM_001172420.1:c.*3417G>A, NM_001172420.1:c.*3417G>T

Select item 149073810117.

rs1490738101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:52449544 (GRCh38)
6:52314342 (GRCh37)
Canonical SPDI:: NC_000006.12:52449543:T:C
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.52449544T>C, NC_000006.11:g.52314342T>C, NG_016760.1:g.34349T>C

Select item 149063781118.

rs1490637811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:52468236 (GRCh38)
6:52333034 (GRCh37)
Canonical SPDI:: NC_000006.12:52468235:G:A
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.52468236G>A, NC_000006.11:g.52333034G>A, NG_016760.1:g.53041G>A

Select item 149055674119.

rs1490556741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:52453627 (GRCh38)
6:52318425 (GRCh37)
Canonical SPDI:: NC_000006.12:52453626:A:G
Gene:: EFHC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.00267/244 (GnomAD_exomes)
HGVS:: NC_000006.12:g.52453627A>G, NC_000006.11:g.52318425A>G, NG_016760.1:g.38432A>G, NR_033327.2:n.1582A>G, NR_033327.1:n.1728A>G

Select item 149054641220.

rs1490546412 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 6:52434900 (GRCh38)
6:52299699 (GRCh37)
Canonical SPDI:: NC_000006.12:52434900:A:ACA
Gene:: EFHC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.52434901_52434902insCA, NC_000006.11:g.52299699_52299700insCA, NG_016760.1:g.19706_19707insCA

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